The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Any method used for determining the location of and relative distances between genes on a chromosome.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
Genetic loci associated with a QUANTITATIVE TRAIT.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.
A plant genus of the family ORCHIDACEAE that contains dihydroayapin (COUMARINS) and phenanthraquinones.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Genes that influence the PHENOTYPE only in the homozygous state.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A family composed of spouses and their children.
Identification of genetic carriers for a given trait.
Common name of the order Siluriformes. This order contains many families and over 2,000 species, including venomous species. Heteropneustes and Plotosus genera have dangerous stings and are aggressive. Most species are passive stingers.
Deoxyribonucleic acid that makes up the genetic material of plants.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Genotypic differences observed among individuals in a population.
Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)
Mushrooms in the order AGARICALES containing B vitamins, cortinelin, and the polysaccharide LENTINAN.
A plant genus of the family FABACEAE that is a source of SPARTEINE, lupanine and other lupin alkaloids.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
A plant genus of the family BRASSICACEAE. The common name of white mustard sometimes refers to other plants (MUSTARD PLANT).
A plant genus of the family ASTERACEAE. Sesquiterpene lactone glucosides (SESQUITERPENES) have been found in it.
A plant genus of the family NELUMBONACEAE. The common name of lotus is also for LOTUS and NYMPHAEA.
A plant family of the order Gentianales, subclass Asteridae, class Magnoliopsida.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The functional hereditary units of PLANTS.
Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Common name for two families of FLATFISHES belonging to the order Pleuronectiformes: left-eye flounders (Bothidae) and right-eye flounders (Pleuronectidae). The latter is more commonly used in research.
A personality disorder characterized by the avoidance of accepting deserved blame and an unwarranted view of others as malevolent. The latter is expressed as suspiciousness, hypersensitivity, and mistrust.
A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A plant species cultivated for the seed used as animal feed and as a source of canola cooking oil.
The systematic study of the complete DNA sequences (GENOME) of organisms.
The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.
A genus of trees of the Myrtaceae family, native to Australia, that yields gums, oils, and resins which are used as flavoring agents, astringents, and aromatics.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
A plant family of the order Lecythidales, subclass Dilleniidae, class Magnoliopsida.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Generalized or localized diffuse fibrous overgrowth of the gingival tissue, usually transmitted as an autosomal dominant trait, but some cases are idiopathic and others produced by drugs. The enlarged gingiva is pink, firm, and has a leather-like consistency with a minutely pebbled surface and in severe cases the teeth are almost completely covered and the enlargement projects into the oral vestibule. (Dorland, 28th ed)
Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Technique that utilizes low-stringency polymerase chain reaction (PCR) amplification with single primers of arbitrary sequence to generate strain-specific arrays of anonymous DNA fragments. RAPD technique may be used to determine taxonomic identity, assess kinship relationships, analyze mixed genome samples, and create specific probes.
Sequential operating programs and data which instruct the functioning of a digital computer.
A genus of basidiomycetous fungi, family POLYPORACEAE, order POLYPORALES, that grows on logs or tree stumps in shelflike layers. The species P. ostreatus, the oyster mushroom, is a choice edible species and is the most frequently encountered member of the genus in eastern North America. (Alexopoulos et al., Introductory Mycology, 4th ed, p531)
A plant genus of the family FABACEAE.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).
A plant species of the family FABACEAE that yields edible seeds, the familiar peanuts, which contain protein, oil and lectins.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A species of sheep, Ovis canadensis, characterized by massive brown horns. There are at least four subspecies and they are all endangered or threatened.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Computer-based representation of physical systems and phenomena such as chemical processes.
Biochemical identification of mutational changes in a nucleotide sequence.
An order of fish with eight families and numerous species of both egg-laying and livebearing fish. Families include Cyprinodontidae (egg-laying KILLIFISHES;), FUNDULIDAEl; (topminnows), Goodeidae (Mexican livebearers), Jenynsiidae (jenynsiids), Poeciliidae (livebearers), Profundulidae (Middle American killifishes), Aplocheilidae, and Rivulidae (rivulines). In the family Poeciliidae, the guppy and molly belong to the genus POECILIA.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A characteristic symptom complex.
Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Coloration or discoloration of a part by a pigment.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
An individual in which both alleles at a given locus are identical.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
A plant genus of the family FABACEAE. This genus was formerly known as Tetragonolobus. The common name of lotus is also used for NYMPHAEA and NELUMBO.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The mating of plants or non-human animals which are closely related genetically.
An individual having different alleles at one or more loci regarding a specific character.
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
The addition of descriptive information about the function or structure of a molecular sequence to its MOLECULAR SEQUENCE DATA record.
Slender-bodies diurnal insects having large, broad wings often strikingly colored and patterned.
The sequential location of genes on a chromosome.
Mapping of the KARYOTYPE of a cell.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Individuals whose ancestral origins are in the continent of Europe.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The relationships of groups of organisms as reflected by their genetic makeup.
The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
A large stout-bodied, sometimes anadromous, TROUT found in still and flowing waters of the Pacific coast from southern California to Alaska. It has a greenish back, a whitish belly, and pink, red, or lavender stripes on the sides, with usually a sprinkling of black dots. It is highly regarded as a sport and food fish. Its former name was Salmo gairdneri. The sea-run rainbow trouts are often called steelheads. Redband trouts refer to interior populations of rainbows.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A social group consisting of parents or parent substitutes and children.
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.
The large family of plants characterized by pods. Some are edible and some cause LATHYRISM or FAVISM and other forms of poisoning. Other species yield useful materials like gums from ACACIA and various LECTINS like PHYTOHEMAGGLUTININS from PHASEOLUS. Many of them harbor NITROGEN FIXATION bacteria on their roots. Many but not all species of "beans" belong to this family.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The study of chance processes or the relative frequency characterizing a chance process.
An annual legume. The SEEDS of this plant are edible and used to produce a variety of SOY FOODS.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.

Linkage and gene localization of hereditary spherocytosis (HS). (1/10869)

Fifteen kindreds with dominant hereditary spherocytosis (HS) were studied. Expansion of the data from a family with an 8/12 translocation provided further evidence that at least one locus for HS is located near the breakpoint of the translocation. Linkage analysis of all families showed a lack of linkage with all marker loci studied except for Gm (IgG). Linkage between Gm and HS was shown to be significant with a maximum lod score of 3.42 at a recombination fraction of 22%. No heterogeneity of the recombination fraction was observed either between sexes or between families. These results are compatible with the hypothesis that HS is not a heterogeneous disorder.  (+info)

Enzymes and reproduction in natural populations of Drosophila euronotus. (2/10869)

Populations of Drosophila euronotus, one from southern Louisiana )3 samples), and one from Missouri (2 samples), were classified for allele frequencies at alkaline phosphatase (APH) and acid phosphatase (ACPH) loci. The two populations differed consistently in allele frequencies at both loci. The APH locus is on the inversion-free X chromosome; the chromosomal locus of the autosomal ACPH is unknown, and could involve inversion polymorphism. Wild females from Missouri and Louisiana populations heterozygous at the APH locus carried more sperm at capture than did the corresponding homozygotes. This heterotic association was significant for the combined samples, and whether it was the result of heterosis at the enzyme locus studied, or due to geographically widespread close linkage with other heterotic loci, it should help to maintain heterozygosity at the APH locus. In a Louisiana collection which included large numbers of sperm-free females, simultaneous homozygosity at both enzyme loci was significantly associated with lack of sperm. It is suggested that the latter association is the result of young heterozygous females achieving sexual maturity earlier than do the double homozygotes. The average effective sperm load for 225 wild females was only 29.4, suggesting the necessity for frequent repeat-mating in nature to maintain female fertility. A comparison of the sex-linked APH genotypes of wild females with those of their daughters indicated that among 295 wild-inseminated females from five populations, 35% had mated more than once, and of this 35%, six females had mated at least three times. Because of ascertainment difficulties, it is clear that the true frequency of multiple-mating in nature must have been much higher than the observed 35%. Laboratory studies indicate that multiple-mating in this species does not involve sperm displacement, possibly due to the small number of sperms transmitted per mating, and the fact that the sperm receptacles are only partially filled by a given mating.  (+info)

Marker effects on reversion of T4rII mutants. (3/10869)

The frequencies of 2-aminopurine- and 5-bromouracil-induced A:T leads to G:C transitions were compared at nonsense sites throughout the rII region of bacteriophage T4. These frequencies are influenced both by adjacent base pairs within the nonsense codons and by extracodonic factors. Following 2AP treatment, they are high in amber (UAG) and lower in opal (UGA) codons than in allelic ochre (UAA) codons. In general, 5BU-induced transitions are more frequent in both amber and opal codons than in the allelic ochre codons. 2AP- and 5BU-induced transition frequencies in the first and third positions of opal codons are correlated with those in the corresponding positions of the allelic ochre codons. Similarly, the frequencies of 2AP-induced transition in the first and second positions of amber codons and their ochre alleles are correlated. However, there is little correlation between the frequencies of 5BU-induced transitions in the first and second positions of allelic amber and ochre codons.  (+info)

Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2. (4/10869)

Significant correlation of body sodium and potassium with blood pressure (BP) may suggest a role for aldosterone in essential hypertension. In patients with this disease, the ratio of plasma renin to plasma aldosterone may be lower than in control subjects and plasma aldosterone levels may be more sensitive to angiotensin II (Ang II) infusion. Because essential hypertension is partly genetic, it is possible that altered control of aldosterone synthase gene expression or translation may be responsible. We compared the frequency of 2 linked polymorphisms, one in the steroidogenic factor-1 (SF-1) binding site and the other an intronic conversion (IC), in groups of hypertensive and normotensive subjects. In a larger population, the relationship of aldosterone excretion rate to these polymorphisms was also evaluated. In 138 hypertensive subjects, there was a highly significant excess of TT homozygosity (SF-1) over CC homozygosity compared with a group of individually matched normotensive control subjects. The T allele was significantly more frequent than the C allele in the hypertensive group compared with the control group. Similarly, there was a highly significant relative excess of the conversion allele over the "wild-type" allele and of conversion homozygosity over wild-type homozygosity in the hypertensive group compared with the control group. In 486 subjects sampled from the North Glasgow Monitoring of Trends and Determinants in Cardiovascular Disease (MONICA) population, SF-1 and IC genotypes were compared with tetrahydroaldosterone excretion rate. Subjects with the SF-1 genotypes TT or TC had significantly higher excretion rates than those with the CC genotype. The T allele was associated with higher excretion rates than the C allele. However, no significant differences were found in excretion rate between subjects of different IC genotype. Urinary aldosterone excretion rate may be a useful intermediate phenotype linking these genotypes to raised BP. However, no causal relationship has yet been established, and it is possible that the polymorphisms may be in linkage with other causative mutations.  (+info)

Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. (5/10869)

OBJECTIVE: To develop diagnostic criteria for a familial form of antiphospholipid antibody syndrome (APS), identify families with >1 affected member, examine possible modes of inheritance, and determine linkage to potential candidate genes. METHODS: Family members of probands with primary APS were analyzed for clinical and laboratory abnormalities associated with APS. Families with > or =2 affected members were analyzed by segregation analysis and typed for candidate genetic markers. RESULTS: Seven families were identified. Thirty of 101 family members met diagnostic criteria for APS. Segregation studies rejected both environmental and autosomal recessive models, and the data were best fit by either a dominant or codominant model. Linkage analysis showed independent segregation of APS and several candidate genes. CONCLUSION: Clinical and laboratory criteria are essential to identify the spectrum of disease associated with APS. We believe a set of criteria was developed that can precisely define affected family members with APS. Modeling studies utilizing these criteria strongly support a genetic basis for disease in families with APS and suggest that a susceptibility gene is inherited in an autosomal dominant pattern. However, in these families, APS was not linked with HLA, Fas, or other candidate genes, including beta2-glycoprotein 1, HLA, T cell receptor beta chain, Ig heavy chain, antithrombin III, Fas ligand, factor V, complement factor H, IgK, and Fas.  (+info)

Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. (6/10869)

X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather. There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder. One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness. Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.  (+info)

Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups. (7/10869)

The locus for the X-borne type of Charcot-Marie-Tooth muscular atrophy is not close to the Xg locus and probably not within direct measurable distance of it.  (+info)

A novel method for determining linkage between DNA sequences: hybridization to paired probe arrays. (8/10869)

Cooperative hybridization has been used to establish physical linkage between two loci on a DNA strand. Linkage was detected by hybridization to a new type of high-density oligonucleotide array. Each synthesis location on the array contains a mixture of two different probe sequences. Each of the two probes can hybridize independently to a different target sequence, but if the two target sequences are physically linked there is a cooperative increase in hybridization yield. The ability to create and control non-linear effects raises a host of possibilities for applications of oligonucleotide array hybridization. The method has been used to assign linkage in 50:50 mixtures of DNA containing single nucleotide polymorphisms (SNPs) separated by 17, 693, 1350 and 2038 bp and to reconstruct haplotypes. Other potential uses include increasing the specificity of hybridization in mutation detection and gene expression monitoring applications, determining SNP haplotypes, characterizing repetitive sequences, such as short tandem repeats, and aiding contig assembly in sequen-cing by hybridization.  (+info)

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

A LOD (Logarithm of Odds) score is not a medical term per se, but rather a statistical concept that is used in genetic research and linkage analysis to determine the likelihood of a gene or genetic marker being linked to a particular disease or trait. The LOD score compares the odds of observing the pattern of inheritance of a genetic marker in a family if the marker is linked to the disease, versus the odds if the marker is not linked. A LOD score of 3 or higher is generally considered evidence for linkage, while a score of -2 or lower is considered evidence against linkage.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

Linkage disequilibrium (LD) is a term used in genetics that refers to the non-random association of alleles at different loci (genetic locations) on a chromosome. This means that certain combinations of genetic variants, or alleles, at different loci occur more frequently together in a population than would be expected by chance.

Linkage disequilibrium can arise due to various factors such as genetic drift, selection, mutation, and population structure. It is often used in the context of genetic mapping studies to identify regions of the genome that are associated with particular traits or diseases. High levels of LD in a region of the genome suggest that the loci within that region are in linkage, meaning they tend to be inherited together.

The degree of LD between two loci can be measured using various statistical methods, such as D' and r-squared. These measures provide information about the strength and direction of the association between alleles at different loci, which can help researchers identify causal genetic variants underlying complex traits or diseases.

Quantitative Trait Loci (QTL) are regions of the genome that are associated with variation in quantitative traits, which are traits that vary continuously in a population and are influenced by multiple genes and environmental factors. QTLs can help to explain how genetic variations contribute to differences in complex traits such as height, blood pressure, or disease susceptibility.

Quantitative trait loci are identified through statistical analysis of genetic markers and trait values in experimental crosses between genetically distinct individuals, such as strains of mice or plants. The location of a QTL is inferred based on the pattern of linkage disequilibrium between genetic markers and the trait of interest. Once a QTL has been identified, further analysis can be conducted to identify the specific gene or genes responsible for the variation in the trait.

It's important to note that QTLs are not themselves genes, but rather genomic regions that contain one or more genes that contribute to the variation in a quantitative trait. Additionally, because QTLs are identified through statistical analysis, they represent probabilistic estimates of the location of genetic factors influencing a trait and may encompass large genomic regions containing multiple genes. Therefore, additional research is often required to fine-map and identify the specific genes responsible for the variation in the trait.

"Genetic crosses" refer to the breeding of individuals with different genetic characteristics to produce offspring with specific combinations of traits. This process is commonly used in genetics research to study the inheritance patterns and function of specific genes.

There are several types of genetic crosses, including:

1. Monohybrid cross: A cross between two individuals that differ in the expression of a single gene or trait.
2. Dihybrid cross: A cross between two individuals that differ in the expression of two genes or traits.
3. Backcross: A cross between an individual from a hybrid population and one of its parental lines.
4. Testcross: A cross between an individual with unknown genotype and a homozygous recessive individual.
5. Reciprocal cross: A cross in which the male and female parents are reversed to determine if there is any effect of sex on the expression of the trait.

These genetic crosses help researchers to understand the mode of inheritance, linkage, recombination, and other genetic phenomena.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

A plant genome refers to the complete set of genetic material or DNA present in the cells of a plant. It contains all the hereditary information necessary for the development and functioning of the plant, including its structural and functional characteristics. The plant genome includes both coding regions that contain instructions for producing proteins and non-coding regions that have various regulatory functions.

The plant genome is composed of several types of DNA molecules, including chromosomes, which are located in the nucleus of the cell. Each chromosome contains one or more genes, which are segments of DNA that code for specific proteins or RNA molecules. Plants typically have multiple sets of chromosomes, with each set containing a complete copy of the genome.

The study of plant genomes is an active area of research in modern biology, with important applications in areas such as crop improvement, evolutionary biology, and medical research. Advances in DNA sequencing technologies have made it possible to determine the complete sequences of many plant genomes, providing valuable insights into their structure, function, and evolution.

Physical chromosome mapping, also known as physical mapping or genomic mapping, is the process of determining the location and order of specific genes or DNA sequences along a chromosome based on their physical distance from one another. This is typically done by using various laboratory techniques such as restriction enzyme digestion, fluorescence in situ hybridization (FISH), and chromosome walking to identify the precise location of a particular gene or sequence on a chromosome.

Physical chromosome mapping provides important information about the organization and structure of chromosomes, and it is essential for understanding genetic diseases and disorders. By identifying the specific genes and DNA sequences that are associated with certain conditions, researchers can develop targeted therapies and treatments to improve patient outcomes. Additionally, physical chromosome mapping is an important tool for studying evolution and comparative genomics, as it allows scientists to compare the genetic makeup of different species and identify similarities and differences between them.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

Genetic recombination is the process by which genetic material is exchanged between two similar or identical molecules of DNA during meiosis, resulting in new combinations of genes on each chromosome. This exchange occurs during crossover, where segments of DNA are swapped between non-sister homologous chromatids, creating genetic diversity among the offspring. It is a crucial mechanism for generating genetic variability and facilitating evolutionary change within populations. Additionally, recombination also plays an essential role in DNA repair processes through mechanisms such as homologous recombinational repair (HRR) and non-homologous end joining (NHEJ).

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

Chromosomes in plants are thread-like structures that contain genetic material, DNA, and proteins. They are present in the nucleus of every cell and are inherited from the parent plants during sexual reproduction. Chromosomes come in pairs, with each pair consisting of one chromosome from each parent.

In plants, like in other organisms, chromosomes play a crucial role in inheritance, development, and reproduction. They carry genetic information that determines various traits and characteristics of the plant, such as its physical appearance, growth patterns, and resistance to diseases.

Plant chromosomes are typically much larger than those found in animals, making them easier to study under a microscope. The number of chromosomes varies among different plant species, ranging from as few as 2 in some ferns to over 1000 in certain varieties of wheat.

During cell division, the chromosomes replicate and then separate into two identical sets, ensuring that each new cell receives a complete set of genetic information. This process is critical for the growth and development of the plant, as well as for the production of viable seeds and offspring.

Human chromosome pair 2 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. Chromosomes are the physical carriers of inheritance, and human cells typically contain 23 pairs of chromosomes for a total of 46 chromosomes.

Chromosome pair 2 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 2 is approximately 247 million base pairs in length and contains an estimated 1,000-1,300 genes. These genes play crucial roles in various biological processes, including development, metabolism, and response to environmental stimuli.

Abnormalities in chromosome pair 2 can lead to genetic disorders, such as cat-eye syndrome (CES), which is characterized by iris abnormalities, anal atresia, hearing loss, and intellectual disability. This disorder arises from the presence of an extra copy of a small region on chromosome 2, resulting in partial trisomy of this region. Other genetic conditions associated with chromosome pair 2 include proximal 2q13.3 microdeletion syndrome and Potocki-Lupski syndrome (PTLS).

Synteny, in the context of genetics and genomics, refers to the presence of two or more genetic loci (regions) on the same chromosome, in the same relative order and orientation. This term is often used to describe conserved gene organization between different species, indicating a common ancestry.

It's important to note that synteny should not be confused with "colinearity," which refers to the conservation of gene content and order within a genome or between genomes of closely related species. Synteny is a broader concept that can also include conserved gene order across more distantly related species, even if some genes have been lost or gained in the process.

In medical research, synteny analysis can be useful for identifying conserved genetic elements and regulatory regions that may play important roles in disease susceptibility or other biological processes.

Human chromosome pair 1 refers to the first pair of chromosomes in a set of 23 pairs found in the cells of the human body, excluding sex cells (sperm and eggs). Each cell in the human body, except for the gametes, contains 46 chromosomes arranged in 23 pairs. These chromosomes are rod-shaped structures that contain genetic information in the form of DNA.

Chromosome pair 1 is the largest pair, making up about 8% of the total DNA in a cell. Each chromosome in the pair consists of two arms - a shorter p arm and a longer q arm - connected at a centromere. Chromosome 1 carries an estimated 2,000-2,500 genes, which are segments of DNA that contain instructions for making proteins or regulating gene expression.

Defects or mutations in the genes located on chromosome 1 can lead to various genetic disorders and diseases, such as Charcot-Marie-Tooth disease type 1A, Huntington's disease, and certain types of cancer.

Genetic heterogeneity is a phenomenon in genetics where different genetic variations or mutations in various genes can result in the same or similar phenotypic characteristics, disorders, or diseases. This means that multiple genetic alterations can lead to the same clinical presentation, making it challenging to identify the specific genetic cause based on the observed symptoms alone.

There are two main types of genetic heterogeneity:

1. Allelic heterogeneity: Different mutations in the same gene can cause the same or similar disorders. For example, various mutations in the CFTR gene can lead to cystic fibrosis, a genetic disorder affecting the respiratory and digestive systems.
2. Locus heterogeneity: Mutations in different genes can result in the same or similar disorders. For instance, mutations in several genes, such as BRCA1, BRCA2, and PALB2, are associated with an increased risk of developing breast cancer.

Genetic heterogeneity is essential to consider when diagnosing genetic conditions, evaluating recurrence risks, and providing genetic counseling. It highlights the importance of comprehensive genetic testing and interpretation for accurate diagnosis and appropriate management of genetic disorders.

Artificial bacterial chromosomes (ABCs) are synthetic replicons that are designed to function like natural bacterial chromosomes. They are created through the use of molecular biology techniques, such as recombination and cloning, to construct large DNA molecules that can stably replicate and segregate within a host bacterium.

ABCs are typically much larger than traditional plasmids, which are smaller circular DNA molecules that can also replicate in bacteria but have a limited capacity for carrying genetic information. ABCs can accommodate large DNA inserts, making them useful tools for cloning and studying large genes, gene clusters, or even entire genomes of other organisms.

There are several types of ABCs, including bacterial artificial chromosomes (BACs), P1-derived artificial chromosomes (PACs), and yeast artificial chromosomes (YACs). BACs are the most commonly used type of ABC and can accommodate inserts up to 300 kilobases (kb) in size. They have been widely used in genome sequencing projects, functional genomics studies, and protein production.

Overall, artificial bacterial chromosomes provide a powerful tool for manipulating and studying large DNA molecules in a controlled and stable manner within bacterial hosts.

Expressed Sequence Tags (ESTs) are short, single-pass DNA sequences that are derived from cDNA libraries. They represent a quick and cost-effective method for large-scale sequencing of gene transcripts and provide an unbiased view of the genes being actively expressed in a particular tissue or developmental stage. ESTs can be used to identify and study new genes, to analyze patterns of gene expression, and to develop molecular markers for genetic mapping and genome analysis.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Amplified Fragment Length Polymorphism (AFLP) analysis is a molecular biology technique used for DNA fingerprinting, genetic mapping, and population genetics studies. It is based on the selective amplification of restriction fragments from a total digest of genomic DNA, followed by separation and detection of the resulting fragments using polyacrylamide gel electrophoresis.

In AFLP analysis, genomic DNA is first digested with two different restriction enzymes, one that cuts frequently (e.g., EcoRI) and another that cuts less frequently (e.g., MseI). The resulting fragments are then ligated to adapter sequences that provide recognition sites for PCR amplification.

Selective amplification of the restriction fragments is achieved by using primers that anneal to the adapter sequences and contain additional selective nucleotides at their 3' ends. This allows for the amplification of a subset of the total number of restriction fragments, resulting in a pattern of bands that is specific to the DNA sample being analyzed.

The amplified fragments are then separated by size using polyacrylamide gel electrophoresis and visualized by staining with a fluorescent dye. The resulting banding pattern can be used for various applications, including identification of genetic differences between individuals, detection of genomic alterations in cancer cells, and analysis of population structure and diversity.

Overall, AFLP analysis is a powerful tool for the study of complex genomes and has been widely used in various fields of biology, including plant and animal breeding, forensic science, and medical research.

Dendrobium is a genus of flowering plants in the family Orchidaceae. It contains around 1,200 to 1,500 species, making it one of the largest orchid genera. The name Dendrobium comes from the Greek words "dendron" meaning tree and "bios" meaning life, which refers to the fact that many of these orchids grow on trees or other plants as epiphytes.

Dendrobium orchids are native to a wide range of habitats in Asia, Australia, and the Pacific Islands. They vary greatly in size, shape, and color, but most have fleshy, jointed stems and narrow leaves. Some species produce flowers that are highly fragrant and last for several weeks.

In traditional medicine, some Dendrobium species have been used for their anti-inflammatory, antioxidant, and immune-boosting properties. However, it is important to note that the safety and efficacy of using these plants as medicinal remedies have not been thoroughly studied and should be approached with caution.

A quantitative trait is a phenotypic characteristic that can be measured and displays continuous variation, meaning it can take on any value within a range. Examples include height, blood pressure, or biochemical measurements like cholesterol levels. These traits are usually influenced by the combined effects of multiple genes (polygenic inheritance) as well as environmental factors.

Heritability, in the context of genetics, refers to the proportion of variation in a trait that can be attributed to genetic differences among individuals in a population. It is estimated using statistical methods and ranges from 0 to 1, with higher values indicating a greater contribution of genetics to the observed phenotypic variance.

Therefore, a heritable quantitative trait would be a phenotype that shows continuous variation, influenced by multiple genes and environmental factors, and for which a significant portion of the observed variation can be attributed to genetic differences among individuals in a population.

Sequence Tagged Sites (STSs) are specific, defined DNA sequences that are mapped to a unique location in the human genome. They were developed as part of a physical mapping strategy for the Human Genome Project and serve as landmarks for identifying and locating genetic markers, genes, and other features within the genome. STSs are typically short (around 200-500 base pairs) and contain unique sequences that can be amplified by PCR, allowing for their detection and identification in DNA samples. The use of STSs enables researchers to construct physical maps of large genomes with high resolution and accuracy, facilitating the study of genome organization, variation, and function.

Human chromosome pair 5 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of chromosome pair 5 is a single chromosome, and humans typically have 23 pairs of chromosomes for a total of 46 chromosomes in every cell of their body (except gametes or sex cells, which contain 23 chromosomes).

Chromosome pair 5 is one of the autosomal pairs, meaning it is not a sex chromosome. Each member of chromosome pair 5 is approximately 197 million base pairs in length and contains around 800-900 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome pair 5 is associated with several genetic disorders, including cri du chat syndrome (resulting from a deletion on the short arm of chromosome 5), Prader-Willi syndrome and Angelman syndrome (both resulting from abnormalities in gene expression on the long arm of chromosome 5).

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

A genome is the complete set of genetic material (DNA, or in some viruses, RNA) present in a single cell of an organism. It includes all of the genes, both coding and noncoding, as well as other regulatory elements that together determine the unique characteristics of that organism. The human genome, for example, contains approximately 3 billion base pairs and about 20,000-25,000 protein-coding genes.

The term "genome" was first coined by Hans Winkler in 1920, derived from the word "gene" and the suffix "-ome," which refers to a complete set of something. The study of genomes is known as genomics.

Understanding the genome can provide valuable insights into the genetic basis of diseases, evolution, and other biological processes. With advancements in sequencing technologies, it has become possible to determine the entire genomic sequence of many organisms, including humans, and use this information for various applications such as personalized medicine, gene therapy, and biotechnology.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

Human chromosome pair 10 refers to a group of genetic materials that are present in every cell of the human body. Chromosomes are thread-like structures that carry our genes and are located in the nucleus of most cells. They come in pairs, with one set inherited from each parent.

Chromosome pair 10 is one of the 22 autosomal chromosome pairs, meaning they contain genes that are not related to sex determination. Each member of chromosome pair 10 is a single, long DNA molecule that contains thousands of genes and other genetic material.

Chromosome pair 10 is responsible for carrying genetic information that influences various traits and functions in the human body. Some of the genes located on chromosome pair 10 are associated with certain medical conditions, such as hereditary breast and ovarian cancer syndrome, neurofibromatosis type 1, and Waardenburg syndrome type 2A.

It's important to note that while chromosomes carry genetic information, not all variations in the DNA sequence will result in a change in phenotype or function. Some variations may have no effect at all, while others may lead to changes in how proteins are made and function, potentially leading to disease or other health issues.

Human chromosome pair 3 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. Chromosomes are made up of DNA, which contains the instructions for the development and function of all living organisms.

Human chromosomes are numbered from 1 to 22, with an additional two sex chromosomes (X and Y) that determine biological sex. Chromosome pair 3 is one of the autosomal pairs, meaning it contains genes that are not related to sex determination. Each member of chromosome pair 3 is identical in size and shape and contains a single long DNA molecule that is coiled tightly around histone proteins to form a compact structure.

Chromosome pair 3 is associated with several genetic disorders, including Waardenburg syndrome, which affects pigmentation and hearing; Marfan syndrome, which affects the connective tissue; and some forms of retinoblastoma, a rare eye cancer that typically affects young children.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Human chromosome pair 12 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Chromosome pair 12 is the 12th pair of autosomal chromosomes, meaning they are not sex chromosomes (X or Y).

Chromosome 12 is a medium-sized chromosome and contains an estimated 130 million base pairs of DNA. It contains around 1,200 genes that provide instructions for making proteins and regulating various cellular processes. Some of the genes located on chromosome 12 include those involved in metabolism, development, and response to environmental stimuli.

Abnormalities in chromosome 12 can lead to genetic disorders, such as partial trisomy 12q, which is characterized by an extra copy of the long arm of chromosome 12, and Jacobsen syndrome, which is caused by a deletion of the distal end of the long arm of chromosome 12.

Human chromosome pair 11 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are located on the eleventh position in the standard karyotype, which is a visual representation of the 23 pairs of human chromosomes.

Chromosome 11 is one of the largest human chromosomes and contains an estimated 135 million base pairs. It contains approximately 1,400 genes that provide instructions for making proteins, as well as many non-coding RNA molecules that play a role in regulating gene expression.

Chromosome 11 is known to contain several important genes and genetic regions associated with various human diseases and conditions. For example, it contains the Wilms' tumor 1 (WT1) gene, which is associated with kidney cancer in children, and the neurofibromatosis type 1 (NF1) gene, which is associated with a genetic disorder that causes benign tumors to grow on nerves throughout the body. Additionally, chromosome 11 contains the region where the ABO blood group genes are located, which determine a person's blood type.

It's worth noting that human chromosomes come in pairs because they contain two copies of each gene, one inherited from the mother and one from the father. This redundancy allows for genetic diversity and provides a backup copy of essential genes, ensuring their proper function and maintaining the stability of the genome.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Human chromosome pair 16 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 16 contains two homologous chromosomes, which are similar in size, shape, and genetic content but may have slight variations due to differences in the DNA sequences inherited from each parent.

Chromosome pair 16 is one of the 22 autosomal pairs, meaning it contains non-sex chromosomes that are present in both males and females. Chromosome 16 is a medium-sized chromosome, and it contains around 2,800 genes that provide instructions for making proteins and regulating various cellular processes.

Abnormalities in chromosome pair 16 can lead to genetic disorders such as chronic myeloid leukemia, some forms of mental retardation, and other developmental abnormalities.

A nuclear family, in medical and social sciences, refers to a family structure consisting of two married parents and their biological or adopted children living together in one household. It's the basic unit of a traditional family structure, typically comprising of a father (male parent), a mother (female parent) and their direct offspring. However, it's important to note that there are many different types of families and none is considered universally superior or normative. The concept of a nuclear family has evolved over time and varies across cultures and societies.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

"Catfishes" is a term that refers to a group of ray-finned fish belonging to the order Siluriformes. However, in a medical or clinical context, "catfishing" has taken on a different meaning. It is a term used to describe the phenomenon of creating a false online identity to deceive someone, particularly in social media or dating websites. The person who creates the fake identity is called a "catfish." This behavior can have serious emotional and psychological consequences for those who are being deceived.

DNA, or deoxyribonucleic acid, is the genetic material present in the cells of all living organisms, including plants. In plants, DNA is located in the nucleus of a cell, as well as in chloroplasts and mitochondria. Plant DNA contains the instructions for the development, growth, and function of the plant, and is passed down from one generation to the next through the process of reproduction.

The structure of DNA is a double helix, formed by two strands of nucleotides that are linked together by hydrogen bonds. Each nucleotide contains a sugar molecule (deoxyribose), a phosphate group, and a nitrogenous base. There are four types of nitrogenous bases in DNA: adenine (A), guanine (G), cytosine (C), and thymine (T). Adenine pairs with thymine, and guanine pairs with cytosine, forming the rungs of the ladder that make up the double helix.

The genetic information in DNA is encoded in the sequence of these nitrogenous bases. Large sequences of bases form genes, which provide the instructions for the production of proteins. The process of gene expression involves transcribing the DNA sequence into a complementary RNA molecule, which is then translated into a protein.

Plant DNA is similar to animal DNA in many ways, but there are also some differences. For example, plant DNA contains a higher proportion of repetitive sequences and transposable elements, which are mobile genetic elements that can move around the genome and cause mutations. Additionally, plant cells have cell walls and chloroplasts, which are not present in animal cells, and these structures contain their own DNA.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Penetrance, in medical genetics, refers to the proportion of individuals with a particular genetic variant or mutation who exhibit clinical features or symptoms of a resulting disease. It is often expressed as a percentage, with complete penetrance indicating that all individuals with the genetic change will develop the disease, and reduced or incomplete penetrance suggesting that not all individuals with the genetic change will necessarily develop the disease, even if they express some of its characteristics.

Penetrance can vary depending on various factors such as age, sex, environmental influences, and interactions with other genes. Incomplete penetrance is common in many genetic disorders, making it challenging to predict who will develop symptoms based solely on their genotype.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.

Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.

Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.

Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.

Genetic hybridization is a biological process that involves the crossing of two individuals from different populations or species, which can lead to the creation of offspring with new combinations of genetic material. This occurs when the gametes (sex cells) from each parent combine during fertilization, resulting in a zygote with a unique genetic makeup.

In genetics, hybridization can also refer to the process of introducing new genetic material into an organism through various means, such as genetic engineering or selective breeding. This type of hybridization is often used in agriculture and biotechnology to create crops or animals with desirable traits, such as increased disease resistance or higher yields.

It's important to note that the term "hybrid" can refer to both crosses between different populations within a single species (intraspecific hybrids) and crosses between different species (interspecific hybrids). The latter is often more challenging, as significant genetic differences between the two parental species can lead to various reproductive barriers, making it difficult for the hybrid offspring to produce viable offspring of their own.

Human chromosome pair 19 refers to a group of 19 identical chromosomes that are present in every cell of the human body, except for the sperm and egg cells which contain only 23 chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of DNA (deoxyribonucleic acid) molecules.

Each chromosome is made up of two arms, a shorter p arm and a longer q arm, separated by a centromere. Human chromosome pair 19 is an acrocentric chromosome, which means that the centromere is located very close to the end of the short arm (p arm).

Chromosome pair 19 contains approximately 58 million base pairs of DNA and encodes for around 1,400 genes. It is one of the most gene-dense chromosomes in the human genome, with many genes involved in important biological processes such as metabolism, immunity, and neurological function.

Abnormalities in chromosome pair 19 have been associated with various genetic disorders, including Sotos syndrome, which is characterized by overgrowth, developmental delay, and distinctive facial features, and Smith-Magenis syndrome, which is marked by intellectual disability, behavioral problems, and distinct physical features.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

A genetic locus (plural: loci) is a specific location on a chromosome where a particular gene or DNA sequence is found. It is the precise position where a specific genetic element, such as a gene or marker, is located on a chromsomere. This location is defined in terms of its relationship to other genetic markers and features on the same chromosome. Genetic loci can be used in linkage and association studies to identify the inheritance patterns and potential relationships between genes and various traits or diseases.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

I'm sorry for any confusion, but "siblings" is not a medical term. It is a term used in genealogy and sociology to refer to the brothers and sisters that someone has. Sibling relationships can have medical implications, such as when inherited genetic disorders are present in a family, but the term "siblings" itself does not have a specific medical definition.

Shiitake mushrooms (Lentinula edodes) are not a medical term, but rather a type of edible mushroom that is commonly used in cooking and has been studied for potential medicinal properties. Here's a brief description:

Shiitake mushrooms are native to East Asia and are widely cultivated and consumed in many countries, including Japan, China, and Korea. They have a distinctive brown cap, a firm texture, and a rich, earthy flavor. Shiitake mushrooms contain various bioactive compounds, such as polysaccharides, terpenoids, and sterols, which are believed to contribute to their potential health benefits. Some of the reported medicinal properties include immunomodulatory, antitumor, antiviral, antibacterial, and anti-inflammatory effects. However, more research is needed to confirm these findings and establish the optimal dosage and safety profiles for different applications.

It's important to note that while shiitake mushrooms can be a healthy addition to a balanced diet, they should not be used as a substitute for medical treatment or professional advice. Always consult with a healthcare provider for any health concerns or conditions.

"Lupinus" is not a medical term. It is the genus name for the group of plants commonly known as lupines or bluebonnets. Some people may use "lupinus" in a medical context to refer to an allergy or sensitivity to lupine beans or other parts of the lupine plant, which can cause symptoms such as rash, itching, and digestive issues. However, this is not a widely recognized medical condition and reactions to lupines are relatively rare. If you have any concerns about a potential allergy or sensitivity to lupines, it is best to consult with a healthcare professional for proper evaluation and treatment.

Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.

For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:

p = (number of copies of allele A) / (total number of all alleles at that locus)

Similarly, the gene frequency of allele a (denoted as q) would be:

q = (number of copies of allele a) / (total number of all alleles at that locus)

Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.

"Sinapis" is not a term commonly used in modern medical terminology. However, in botanical terms, "Sinapis alba" is the scientific name for white mustard, which is a plant from the Brassicaceae family. The seeds of this plant are often used as a spice or condiment, and they contain compounds that can have medicinal properties. For example, they have been used traditionally to treat respiratory conditions such as asthma and bronchitis. However, it's important to note that the use of mustard seeds in medical treatments is not well-studied and should be approached with caution.

"Sonchus" is a genus name that refers to a group of plants commonly known as sowthistles. These plants belong to the family Asteraceae and are found worldwide. While "Sonchus" itself is not a medical term, some species have been used in traditional medicine. For instance, the leaves of some Sonchus species have been used as a food source or for their supposed medicinal properties, such as being diuretic, expectorant, or anti-inflammatory. However, it's important to note that these uses are not supported by extensive scientific research and should not be considered medical advice. Always consult with a healthcare professional before starting any new treatment or therapy.

"Nelumbo" is the scientific genus name for the lotus flower, which includes two species: Nelumbo nucifera (also known as Sacred Lotus) and Nelumbo lutea (American Lotus). These aquatic plants are known for their large, beautiful flowers that bloom on the surface of the water. While "Nelumbo" is a term from plant taxonomy and botany, it does not have a specific medical definition as such. However, various parts of Nelumbo plants have been used in traditional medicine across different cultures for treating various health conditions. For instance, the seeds, leaves, and roots of Nelumbo nucifera are used in Traditional Chinese Medicine to treat several ailments like diarrhea, fever, and skin diseases. Nonetheless, it is essential to consult healthcare professionals before using any plant or herbal remedy for medicinal purposes.

Gentianaceae is not a medical term, but a taxonomic category in botany. It refers to the family of plants that includes gentians and related genera. These plants are known for their beautiful, often brightly colored flowers, and are found primarily in temperate and subtropical regions around the world.

Some species of Gentianaceae have been used in traditional medicine for their purported therapeutic properties. For example, gentian root has been used as a bitter tonic to stimulate digestion and appetite, and to treat various gastrointestinal disorders. However, it's important to note that the use of these plants in medical treatment should be based on scientific evidence and under the guidance of a qualified healthcare professional.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

A gene in plants, like in other organisms, is a hereditary unit that carries genetic information from one generation to the next. It is a segment of DNA (deoxyribonucleic acid) that contains the instructions for the development and function of an organism. Genes in plants determine various traits such as flower color, plant height, resistance to diseases, and many others. They are responsible for encoding proteins and RNA molecules that play crucial roles in the growth, development, and reproduction of plants. Plant genes can be manipulated through traditional breeding methods or genetic engineering techniques to improve crop yield, enhance disease resistance, and increase nutritional value.

"Likelihood functions" is a statistical concept that is used in medical research and other fields to estimate the probability of obtaining a given set of data, given a set of assumptions or parameters. In other words, it is a function that describes how likely it is to observe a particular outcome or result, based on a set of model parameters.

More formally, if we have a statistical model that depends on a set of parameters θ, and we observe some data x, then the likelihood function is defined as:

L(θ | x) = P(x | θ)

This means that the likelihood function describes the probability of observing the data x, given a particular value of the parameter vector θ. By convention, the likelihood function is often expressed as a function of the parameters, rather than the data, so we might instead write:

L(θ) = P(x | θ)

The likelihood function can be used to estimate the values of the model parameters that are most consistent with the observed data. This is typically done by finding the value of θ that maximizes the likelihood function, which is known as the maximum likelihood estimator (MLE). The MLE has many desirable statistical properties, including consistency, efficiency, and asymptotic normality.

In medical research, likelihood functions are often used in the context of Bayesian analysis, where they are combined with prior distributions over the model parameters to obtain posterior distributions that reflect both the observed data and prior knowledge or assumptions about the parameter values. This approach is particularly useful when there is uncertainty or ambiguity about the true value of the parameters, as it allows researchers to incorporate this uncertainty into their analyses in a principled way.

Inborn genetic diseases, also known as inherited genetic disorders, are conditions caused by abnormalities in an individual's DNA that are present at conception. These abnormalities can include mutations, deletions, or rearrangements of genes or chromosomes. In many cases, these genetic changes are inherited from one or both parents and may be passed down through families.

Inborn genetic diseases can affect any part of the body and can cause a wide range of symptoms, which can vary in severity depending on the specific disorder. Some genetic disorders are caused by mutations in a single gene, while others are caused by changes in multiple genes or chromosomes. In some cases, environmental factors may also contribute to the development of these conditions.

Examples of inborn genetic diseases include cystic fibrosis, sickle cell anemia, Huntington's disease, Duchenne muscular dystrophy, and Down syndrome. These conditions can have significant impacts on an individual's health and quality of life, and many require ongoing medical management and treatment. In some cases, genetic counseling and testing may be recommended for individuals with a family history of a particular genetic disorder to help them make informed decisions about their reproductive options.

Human chromosome pair 17 consists of two rod-shaped structures present in the nucleus of each human cell. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex called chromatin. Chromosomes carry genetic information in the form of genes, which are segments of DNA that contain instructions for the development and function of an organism.

Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 17 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome 17 is a medium-sized chromosome and contains an estimated 800 million base pairs of DNA. It contains approximately 1,500 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome 17 is associated with several genetic disorders, including inherited cancer syndromes such as Li-Fraumeni syndrome and hereditary nonpolyposis colorectal cancer (HNPCC). Mutations in genes located on chromosome 17 can increase the risk of developing various types of cancer, including breast, ovarian, colon, and pancreatic cancer.

I'm sorry for any confusion, but "flounder" is not a medical term. It is a common name used for several species of flatfish that are widely consumed as food. If you have any questions about medical terminology or health-related topics, please don't hesitate to ask!

Paranoid Personality Disorder (PPD) is a mental health condition characterized by a persistent pattern of distrust and suspicion, such that others' intentions are interpreted as malevolent. This disorder is defined in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), used by mental health professionals to diagnose mental conditions.

To be diagnosed with PPD, an individual must display at least four of the following symptoms:

1. Suspects, without sufficient reason, that others are exploiting, harming, or deceiving them.
2. Is preoccupied with unjustified doubts about the loyalty or trustworthiness of friends or associates.
3. Is reluctant to confide in others because of unwarranted fear that the information will be used maliciously against them.
4. Reads hidden demeaning or threatening meanings into benign remarks or events.
5. Persistently bears grudges, i.e., is unforgiving of insults, injuries, or slights.
6. Perceives attacks on their character or reputation that are not apparent to others and is quick to react angrily or to counterattack.
7. Has recurrent suspicions, without justification, regarding fidelity of spouse or sexual partner.

These symptoms must be present for a significant period, typically at least one year, and must cause clinically significant distress or impairment in social, occupational, or other important areas of functioning. Additionally, the symptoms cannot be better explained by another mental disorder, such as Schizophrenia, a Mood Disorder with Psychotic Features, or Substance/Medication-Induced Psychotic Disorder.

Radiation hybrid (RH) mapping is a genetic mapping technique used to determine the relative order and distance between DNA markers or genes on a chromosome. This technique involves exposing donor cells, which contain the chromosome of interest, to high-dose radiation. The radiation causes breaks in the chromosomes, which are then repaired by fusing the donor cells with irradiated hamster cells (the recipient cells).

During the repair process, the broken chromosomal fragments from the donor cell randomly assort and integrate into the genome of the recipient cell. The resulting hybrid cells contain a mosaic of donor chromosomal fragments, which can be analyzed to determine the order and distance between DNA markers or genes on the original chromosome.

The frequency of co-occurrence of two markers in the same hybrid cell is used as an estimate of their physical proximity on the chromosome. The greater the frequency of co-occurrence, the closer the two markers are assumed to be. RH mapping can provide high-resolution maps of large genomes and has been widely used for mapping human and other mammalian genomes. However, with the advent of next-generation sequencing technologies, RH mapping has largely been replaced by sequence-based methods such as whole-genome sequencing and optical mapping.

Mammalian chromosomes are thread-like structures that exist in the nucleus of mammalian cells, consisting of DNA, hist proteins, and RNA. They carry genetic information that is essential for the development and function of all living organisms. In mammals, each cell contains 23 pairs of chromosomes, for a total of 46 chromosomes, with one set inherited from the mother and the other from the father.

The chromosomes are typically visualized during cell division, where they condense and become visible under a microscope. Each chromosome is composed of two identical arms, separated by a constriction called the centromere. The short arm of the chromosome is labeled as "p," while the long arm is labeled as "q."

Mammalian chromosomes play a critical role in the transmission of genetic information from one generation to the next and are essential for maintaining the stability and integrity of the genome. Abnormalities in the number or structure of mammalian chromosomes can lead to various genetic disorders, including Down syndrome, Turner syndrome, and Klinefelter syndrome.

'Brassica rapa' is the scientific name for a species of plant that includes various types of vegetables such as turnips, Chinese cabbages, and bok choy. It is a member of the Brassicaceae family, also known as the mustard or cabbage family. The plants in this species are characterized by their broad leaves and branching stem, and they are native to Europe and Central Asia.

Turnips, which are one of the most common vegetables in this species, are cool-season root crops that are grown for their enlarged taproot. They have a white or yellowish flesh that is crisp and tender with a sweet, slightly bitter flavor. Turnips can be eaten raw or cooked and are often used in soups, stews, and casseroles.

Chinese cabbages, also known as Napa cabbages, are another type of vegetable in the 'Brassica rapa' species. They have elongated, pale green leaves that form a compact head, and they are often used in Asian cuisine. Chinese cabbages have a mild flavor and can be eaten raw or cooked.

Bok choy, also known as pak choi, is another type of vegetable in the 'Brassica rapa' species. It has dark green leaves and white stems, and it is often used in stir-fries and soups. Bok choy has a mild flavor and a crisp texture.

Overall, 'Brassica rapa' is an important species of plant that includes many nutritious and delicious vegetables that are popular around the world.

Genomics is the scientific study of genes and their functions. It involves the sequencing and analysis of an organism's genome, which is its complete set of DNA, including all of its genes. Genomics also includes the study of how genes interact with each other and with the environment. This field of study can provide important insights into the genetic basis of diseases and can lead to the development of new diagnostic tools and treatments.

Crossing over, genetic is a process that occurs during meiosis, where homologous chromosomes exchange genetic material with each other. It is a crucial mechanism for generating genetic diversity in sexually reproducing organisms.

Here's a more detailed explanation:

During meiosis, homologous chromosomes pair up and align closely with each other. At this point, sections of the chromosomes can break off and reattach to the corresponding section on the homologous chromosome. This exchange of genetic material is called crossing over or genetic recombination.

The result of crossing over is that the two resulting chromosomes are no longer identical to each other or to the original chromosomes. Instead, they contain a unique combination of genetic material from both parents. Crossing over can lead to new combinations of alleles (different forms of the same gene) and can increase genetic diversity in the population.

Crossing over is a random process, so the location and frequency of crossover events vary between individuals and between chromosomes. The number and position of crossovers can affect the likelihood that certain genes will be inherited together or separated, which is an important consideration in genetic mapping and breeding studies.

Eucalyptus is defined in medical terms as a genus of mostly Australian trees and shrubs that have aromatic leaves and bark, and oil-containing foliage. The oil from eucalyptus leaves contains a chemical called eucalyptol, which has been found to have several medicinal properties.

Eucalyptus oil has been used in traditional medicine for centuries to treat various health conditions such as respiratory problems, fever, and pain. It has anti-inflammatory, antispasmodic, decongestant, and expectorant properties, making it a popular remedy for colds, coughs, and congestion.

Eucalyptus oil is also used in modern medicine as an ingredient in over-the-counter products such as throat lozenges, cough syrups, and topical pain relievers. It is important to note that eucalyptus oil should not be ingested undiluted, as it can be toxic in large amounts.

In addition to its medicinal uses, eucalyptus trees are also known for their rapid growth and ability to drain swampland, making them useful in land reclamation projects.

A DNA probe is a single-stranded DNA molecule that contains a specific sequence of nucleotides, and is labeled with a detectable marker such as a radioisotope or a fluorescent dye. It is used in molecular biology to identify and locate a complementary sequence within a sample of DNA. The probe hybridizes (forms a stable double-stranded structure) with its complementary sequence through base pairing, allowing for the detection and analysis of the target DNA. This technique is widely used in various applications such as genetic testing, diagnosis of infectious diseases, and forensic science.

I apologize for any confusion, but "Lecythidaceae" is not a medical term. It is a taxonomic category in botany, referring to a family of flowering plants known as the Brazil nut family. This family includes several genera of trees that are native to tropical regions of the Americas and Africa. The seeds of some species in this family, such as the Brazil nut tree (Bertholletia excelsa), are edible and economically important.

If you have any questions related to medical terminology or health sciences, I would be happy to help!

Human chromosome pair 20 is one of the 23 pairs of human chromosomes present in every cell of the body, except for the sperm and egg cells which contain only 23 individual chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of genes.

Human chromosome pair 20 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the junction of the two arms. The short arm of chromosome 20 is very small and contains few genes, while the long arm contains several hundred genes that play important roles in various biological processes.

Chromosome pair 20 is associated with several genetic disorders, including DiGeorge syndrome, which is caused by a deletion of a portion of the long arm of chromosome 20. This syndrome is characterized by birth defects affecting the heart, face, and immune system. Other conditions associated with abnormalities of chromosome pair 20 include some forms of intellectual disability, autism spectrum disorder, and cancer.

Gingival fibromatosis is a benign (non-cancerous) condition characterized by the excessive growth of gum (gingival) tissue. The overgrowth can affect one or both the maxilla (upper jaw) and mandible (lower jaw) and can lead to various dental and oral health issues, such as difficulty in chewing, speaking, and maintaining proper oral hygiene.

The etiology of gingival fibromatosis can be divided into two categories: hereditary and acquired. Hereditary gingival fibromatosis is often associated with genetic mutations, while acquired gingival fibromatosis can result from factors like chronic inflammation due to poor oral hygiene, certain medications (such as phenytoin, cyclosporine, or nifedipine), and systemic conditions (like leukemia).

The management of gingival fibromatosis typically involves surgical removal of the excess tissue. However, recurrence is common due to the condition's tendency for regrowth. Regular follow-ups with a dental professional are essential to monitor any potential regrowth and maintain good oral hygiene.

Epidermolysis Bullosa Dystrophica (EBD) is a type of inherited skin disorder that belongs to the group of conditions known as Epidermolysis Bullosa. This condition is characterized by the development of fragile, blistering skin that can be caused by minor trauma or friction.

In EBD, the blisters form in the upper layer of the skin (epidermis) and the underlying layer (dermis), leading to scarring and tissue damage. The symptoms of EBD can range from mild to severe and may include:

* Blistering of the skin that can be triggered by friction, heat, or other factors
* Formation of scars, particularly on the hands and feet
* Thickening of the skin (hyperkeratosis)
* Nail abnormalities, such as ridged or brittle nails
* Mouth sores and blisters
* Dental problems, including tooth decay and gum disease

EBD is caused by mutations in the genes that provide instructions for making proteins that help to anchor the skin's layers together. As a result, the skin becomes fragile and prone to blistering.

There are several subtypes of EBD, each with its own specific genetic cause and symptoms. Treatment typically involves wound care, prevention of infection, and management of pain. In severe cases, surgery may be necessary to treat complications such as scarring or contractures.

Species specificity is a term used in the field of biology, including medicine, to refer to the characteristic of a biological entity (such as a virus, bacterium, or other microorganism) that allows it to interact exclusively or preferentially with a particular species. This means that the biological entity has a strong affinity for, or is only able to infect, a specific host species.

For example, HIV is specifically adapted to infect human cells and does not typically infect other animal species. Similarly, some bacterial toxins are species-specific and can only affect certain types of animals or humans. This concept is important in understanding the transmission dynamics and host range of various pathogens, as well as in developing targeted therapies and vaccines.

Satellite DNA is a type of DNA sequence that is repeated in a tandem arrangement in the genome. These repeats are usually relatively short, ranging from 2 to 10 base pairs, and are often present in thousands to millions of copies arranged in head-to-tail fashion. Satellite DNA can be found in centromeric and pericentromeric regions of chromosomes, as well as at telomeres and other heterochromatic regions of the genome.

Due to their repetitive nature, satellite DNAs are often excluded from the main part of the genome during DNA sequencing projects, and therefore have been referred to as "satellite" DNA. However, recent studies suggest that satellite DNA may play important roles in chromosome structure, function, and evolution.

It's worth noting that not all repetitive DNA sequences are considered satellite DNA. For example, microsatellites and minisatellites are also repetitive DNA sequences, but they have different repeat lengths and arrangements than satellite DNA.

Contig mapping, short for contiguous mapping, is a process used in genetics and genomics to construct a detailed map of a particular region or regions of a genome. It involves the use of molecular biology techniques to physically join together, or "clone," overlapping DNA fragments from a specific region of interest in a genome. These joined fragments are called "contigs" because they are continuous and contiguous stretches of DNA that represent a contiguous map of the region.

Contig mapping is often used to study large-scale genetic variations, such as deletions, duplications, or rearrangements, in specific genomic regions associated with diseases or other traits. It can also be used to identify and characterize genes within those regions, which can help researchers understand their function and potential role in disease processes.

The process of contig mapping typically involves several steps, including:

1. DNA fragmentation: The genomic region of interest is broken down into smaller fragments using physical or enzymatic methods.
2. Cloning: The fragments are inserted into a vector, such as a plasmid or bacteriophage, which can be replicated in bacteria to produce multiple copies of each fragment.
3. Library construction: The cloned fragments are pooled together to create a genomic library, which contains all the DNA fragments from the region of interest.
4. Screening and selection: The library is screened using various methods, such as hybridization or PCR, to identify clones that contain overlapping fragments from the region of interest.
5. Contig assembly: The selected clones are ordered based on their overlapping regions to create a contiguous map of the genomic region.
6. Sequencing and analysis: The DNA sequence of the contigs is determined and analyzed to identify genes, regulatory elements, and other features of the genomic region.

Overall, contig mapping is an important tool for studying the structure and function of genomes, and has contributed significantly to our understanding of genetic variation and disease mechanisms.

Population Genetics is a subfield of genetics that deals with the genetic composition of populations and how this composition changes over time. It involves the study of the frequency and distribution of genes and genetic variations in populations, as well as the evolutionary forces that contribute to these patterns, such as mutation, gene flow, genetic drift, and natural selection.

Population genetics can provide insights into a wide range of topics, including the history and relationships between populations, the genetic basis of diseases and other traits, and the potential impacts of environmental changes on genetic diversity. This field is important for understanding evolutionary processes at the population level and has applications in areas such as conservation biology, medical genetics, and forensic science.

Random Amplified Polymorphic DNA (RAPD) technique is a type of Polymerase Chain Reaction (PCR)-based method used in molecular biology for DNA fingerprinting and genetic diversity analysis. This technique utilizes random primers of arbitrary nucleotide sequences to amplify random segments of genomic DNA. The amplified products are then separated by electrophoresis, and the resulting banding patterns are analyzed.

In RAPD analysis, the randomly chosen primers bind to multiple sites in the genome, and the intervening regions between the primer binding sites are amplified. Since the primer binding sites can vary among individuals within a species or among different species, the resulting amplicons will also differ. These differences in amplicon size and pattern can be used to distinguish between individuals or populations at the DNA level.

RAPD is a relatively simple and cost-effective technique that does not require prior knowledge of the genome sequence. However, it has some limitations, such as low reproducibility and sensitivity to experimental conditions. Despite these limitations, RAPD remains a useful tool for genetic analysis in various fields, including forensics, plant breeding, and microbial identification.

I am not aware of a widely accepted medical definition for the term "software," as it is more commonly used in the context of computer science and technology. Software refers to programs, data, and instructions that are used by computers to perform various tasks. It does not have direct relevance to medical fields such as anatomy, physiology, or clinical practice. If you have any questions related to medicine or healthcare, I would be happy to try to help with those instead!

"Pleurotus" is not a medical term, but a genus of fungi commonly known as oyster mushrooms. These mushrooms are often consumed for their nutritional and potential medicinal benefits. However, in a medical context, if someone is referring to "pleural," it relates to the pleura, which is the double-layered serous membrane that surrounds the lungs and lines the inside of the chest wall. Any medical condition or disease affecting this area may be described as "pleural."

"Trifolium" is not a medical term. It is actually the genus name for a group of plants commonly known as clover. These plants belong to the family Fabaceae and are found in many temperate regions around the world. Some species, like red clover (Trifolium pratense), are used in herbal medicine for various purposes, such as treating respiratory conditions, skin inflammations, and menopausal symptoms. However, it's important to consult with a healthcare professional before using any herbal remedies.

A Genome-Wide Association Study (GWAS) is an analytical approach used in genetic research to identify associations between genetic variants, typically Single Nucleotide Polymorphisms (SNPs), and specific traits or diseases across the entire genome. This method involves scanning the genomes of many individuals, usually thousands, to find genetic markers that occur more frequently in people with a particular disease or trait than in those without it.

The goal of a GWAS is to identify genetic loci (positions on chromosomes) associated with a trait or disease, which can help researchers understand the underlying genetic architecture and biological mechanisms contributing to the condition. It's important to note that while GWAS can identify associations between genetic variants and traits/diseases, these studies do not necessarily prove causation. Further functional validation studies are often required to confirm the role of identified genetic variants in the development or progression of a trait or disease.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

Genotyping techniques are a group of laboratory methods used to identify and detect specific variations or differences in the DNA sequence, known as genetic variants or polymorphisms, that make up an individual's genotype. These techniques can be applied to various fields, including medical diagnostics, forensic science, and genetic research.

There are several types of genotyping techniques, each with its advantages and limitations depending on the application. Some common methods include:

1. Polymerase Chain Reaction (PCR)-based methods: These involve amplifying specific DNA sequences using PCR and then analyzing them for genetic variations. Examples include Restriction Fragment Length Polymorphism (RFLP), Amplification Refractory Mutation System (ARMS), and Allele-Specific PCR (AS-PCR).
2. Microarray-based methods: These involve hybridizing DNA samples to arrays containing thousands of known genetic markers or probes, allowing for simultaneous detection of multiple genetic variants. Examples include Single Nucleotide Polymorphism (SNP) arrays and Comparative Genomic Hybridization (CGH) arrays.
3. Sequencing-based methods: These involve determining the precise order of nucleotides in a DNA sequence to identify genetic variations. Examples include Sanger sequencing, Next-Generation Sequencing (NGS), and Whole Genome Sequencing (WGS).
4. Mass spectrometry-based methods: These involve measuring the mass-to-charge ratio of DNA fragments or oligonucleotides to identify genetic variants. Examples include Matrix-Assisted Laser Desorption/Ionization Time-of-Flight (MALDI-TOF) mass spectrometry and Pyrosequencing.

Genotyping techniques have numerous applications in medicine, such as identifying genetic susceptibility to diseases, predicting drug response, and diagnosing genetic disorders. They also play a crucial role in forensic science for identifying individuals and solving crimes.

'Arachis hypogaea' is the scientific name for the peanut plant. It is a legume crop that grows underground, which is why it is also known as a groundnut. The peanut plant produces flowers above ground, and when the flowers are pollinated, the ovary of the flower elongates and grows downwards into the soil where the peanut eventually forms and matures.

The peanut is not only an important food crop worldwide but also has various industrial uses, including the production of biodiesel, plastics, and animal feed. The plant is native to South America and was domesticated by indigenous peoples in what is now Brazil and Peru thousands of years ago. Today, peanuts are grown in many countries around the world, with China, India, and the United States being the largest producers.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Human chromosome pair 9 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. The two chromosomes in a pair are identical or very similar to each other in terms of their size, shape, and genetic makeup.

Chromosome 9 is one of the autosomal chromosomes, meaning that it is not a sex chromosome (X or Y) and is present in two copies in all cells of the body, regardless of sex. Chromosome 9 is a medium-sized chromosome, and it is estimated to contain around 135 million base pairs of DNA and approximately 1200 genes.

Chromosome 9 contains several important genes that are associated with various human traits and diseases. For example, mutations in the gene that encodes the protein APOE on chromosome 9 have been linked to an increased risk of developing Alzheimer's disease. Additionally, variations in the gene that encodes the protein EGFR on chromosome 9 have been associated with an increased risk of developing certain types of cancer.

Overall, human chromosome pair 9 plays a critical role in the development and function of the human body, and variations in its genetic makeup can contribute to a wide range of traits and diseases.

Inheritance patterns refer to the way in which a particular genetic trait or disorder is passed down from one generation to the next, following the rules of Mendelian genetics. There are several different inheritance patterns, including:

1. Autosomal dominant: A single copy of the altered gene in each cell is sufficient to cause the disorder. An affected parent has a 50% chance of passing on the altered gene to each offspring.
2. Autosomal recessive: Two copies of the altered gene in each cell are necessary for the disorder to occur. Both parents must be carriers of the altered gene and have a 25% chance of passing on the altered gene to each offspring, who may then develop the disorder.
3. X-linked dominant: The altered gene is located on the X chromosome, and one copy of the altered gene in each cell is sufficient to cause the disorder. Females are more likely to be affected than males, and an affected female has a 50% chance of passing on the altered gene to each offspring.
4. X-linked recessive: The altered gene is located on the X chromosome, and two copies of the altered gene in each cell are necessary for the disorder to occur. Males are more likely to be affected than females, and an affected male will pass on the altered gene to all of his daughters (who will be carriers) but none of his sons.
5. Mitochondrial inheritance: The altered gene is located in the mitochondria, the energy-producing structures in cells. Both males and females can pass on mitochondrial genetic disorders, but only through the female line because offspring inherit their mother's mitochondria.

Understanding inheritance patterns helps medical professionals predict the likelihood of a genetic disorder occurring in families and provides information about how a disorder may be passed down through generations.

Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

A "Bighorn Sheep" is not a medical term. It is a type of wild sheep found in North America, recognized by its large, curved horns. The scientific name for this animal is *Ovis canadensis*. However, if you are referring to a condition or injury related to sheep, please provide more context so I can give a more accurate response.

Human chromosome pair 15 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 15 includes two homologous chromosomes, meaning they have the same size, shape, and gene content but may contain slight variations in their DNA sequences.

These chromosomes play a crucial role in inheritance and the development and function of the human body. Chromosome pair 15 contains around 100 million base pairs of DNA and approximately 700 protein-coding genes, which are involved in various biological processes such as growth, development, metabolism, and regulation of gene expression.

Abnormalities in chromosome pair 15 can lead to genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by the loss or alteration of specific regions on chromosome 15.

A computer simulation is a process that involves creating a model of a real-world system or phenomenon on a computer and then using that model to run experiments and make predictions about how the system will behave under different conditions. In the medical field, computer simulations are used for a variety of purposes, including:

1. Training and education: Computer simulations can be used to create realistic virtual environments where medical students and professionals can practice their skills and learn new procedures without risk to actual patients. For example, surgeons may use simulation software to practice complex surgical techniques before performing them on real patients.
2. Research and development: Computer simulations can help medical researchers study the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone. By creating detailed models of cells, tissues, organs, or even entire organisms, researchers can use simulation software to explore how these systems function and how they respond to different stimuli.
3. Drug discovery and development: Computer simulations are an essential tool in modern drug discovery and development. By modeling the behavior of drugs at a molecular level, researchers can predict how they will interact with their targets in the body and identify potential side effects or toxicities. This information can help guide the design of new drugs and reduce the need for expensive and time-consuming clinical trials.
4. Personalized medicine: Computer simulations can be used to create personalized models of individual patients based on their unique genetic, physiological, and environmental characteristics. These models can then be used to predict how a patient will respond to different treatments and identify the most effective therapy for their specific condition.

Overall, computer simulations are a powerful tool in modern medicine, enabling researchers and clinicians to study complex systems and make predictions about how they will behave under a wide range of conditions. By providing insights into the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone, computer simulations are helping to advance our understanding of human health and disease.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Cyprinodontiformes is an order of ray-finned fish that includes several families, such as Cyprinodontidae (livebearers), Poeciliidae (including guppies and mollies), Aplocheilidae, Nothobranchiidae, Rivulidae, Valenciidae, Profundulidae, Goodeidae, Anablepidae, and Jenynsiidae. These fish are characterized by their small size, live-bearing reproduction (in most families), and the presence of a urogenital papilla in males. They inhabit a wide range of freshwater and brackish environments, with some species also found in marine habitats. Many cyprinodontiform fishes are popular as aquarium pets due to their vibrant colors and interesting behaviors.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Minisatellites, also known as VNTRs (Variable Number Tandem Repeats), are repetitive DNA sequences that consist of a core repeat unit of 10-60 base pairs, arranged in a head-to-tail fashion. They are often found in non-coding regions of the genome and can vary in the number of times the repeat unit is present in an individual's DNA. This variation in repeat number can occur both within and between individuals, making minisatellites useful as genetic markers for identification and forensic applications. They are also associated with certain genetic disorders and play a role in genome instability.

Human chromosome pair 14 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of the pair contains a single very long DNA molecule that carries an identical set of genes and other genetic elements, totaling approximately 105 million base pairs. These chromosomes play a crucial role in the development, functioning, and reproduction of human beings.

Chromosome 14 is one of the autosomal chromosomes, meaning it is not involved in determining the sex of an individual. It contains around 800-1,000 genes that provide instructions for producing various proteins responsible for numerous cellular functions and processes. Some notable genes located on chromosome 14 include those associated with neurodevelopmental disorders, cancer susceptibility, and immune system regulation.

Human cells typically have 23 pairs of chromosomes, including 22 autosomal pairs (numbered 1-22) and one pair of sex chromosomes (XX for females or XY for males). Chromosome pair 14 is the eighth largest autosomal pair in terms of its total length.

It's important to note that genetic information on chromosome 14, like all human chromosomes, can vary between individuals due to genetic variations and mutations. These differences contribute to the unique characteristics and traits found among humans.

A gene is a specific sequence of nucleotides in DNA that carries genetic information. Genes are the fundamental units of heredity and are responsible for the development and function of all living organisms. They code for proteins or RNA molecules, which carry out various functions within cells and are essential for the structure, function, and regulation of the body's tissues and organs.

Each gene has a specific location on a chromosome, and each person inherits two copies of every gene, one from each parent. Variations in the sequence of nucleotides in a gene can lead to differences in traits between individuals, including physical characteristics, susceptibility to disease, and responses to environmental factors.

Medical genetics is the study of genes and their role in health and disease. It involves understanding how genes contribute to the development and progression of various medical conditions, as well as identifying genetic risk factors and developing strategies for prevention, diagnosis, and treatment.

Pigmentation, in a medical context, refers to the coloring of the skin, hair, or eyes due to the presence of pigment-producing cells called melanocytes. These cells produce a pigment called melanin, which determines the color of our skin, hair, and eyes.

There are two main types of melanin: eumelanin and pheomelanin. Eumelanin is responsible for brown or black coloration, while pheomelanin produces a red or yellow hue. The amount and type of melanin produced by melanocytes can vary from person to person, leading to differences in skin color and hair color.

Changes in pigmentation can occur due to various factors such as genetics, exposure to sunlight, hormonal changes, inflammation, or certain medical conditions. For example, hyperpigmentation refers to an excess production of melanin that results in darkened patches on the skin, while hypopigmentation is a condition where there is a decreased production of melanin leading to lighter or white patches on the skin.

A "gene library" is not a recognized term in medical genetics or molecular biology. However, the closest concept that might be referred to by this term is a "genomic library," which is a collection of DNA clones that represent the entire genetic material of an organism. These libraries are used for various research purposes, such as identifying and studying specific genes or gene functions.

Epidermolytic hyperkeratosis (EH) is a rare genetic skin disorder characterized by the abnormal growth and accumulation of keratin, a protein found in the outermost layer of the skin (epidermis). This condition results in widespread blistering and peeling of the skin, particularly in areas prone to friction such as the hands, feet, knees, and elbows.

EH is caused by mutations in the KRT1 or KRT10 genes, which provide instructions for making keratin proteins that are essential for maintaining the structure and integrity of the epidermis. When these genes are mutated, the keratin proteins become unstable and form clumps, leading to the formation of blisters and areas of thickened, scaly skin (hyperkeratosis).

EH is typically present at birth or appears in early childhood, and it can range from mild to severe. In addition to the skin symptoms, individuals with EH may also experience nail abnormalities, hair loss, and an increased risk of skin infections. Treatment for EH is focused on managing symptoms and preventing complications, and may include topical creams or ointments, wound care, and protection from friction and injury.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

I'm sorry for any confusion, but "hybrid cells" is not a standard medical term with a widely accepted or specific definition in the field of medicine. The term "hybrid" is used in various scientific and medical contexts to describe combinations or mixtures of different elements, such as hybridoma cells (a type of fusion cell used in research, created by combining a B cell and a tumor cell) or hybridization (in genetics, the process of combining DNA from two different sources).

Without more specific context, it's difficult to provide an accurate medical definition for "hybrid cells." If you could provide more information about the context in which this term was used, I would be happy to help you further!

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

A centromere is a specialized region found on chromosomes that plays a crucial role in the separation of replicated chromosomes during cell division. It is the point where the sister chromatids (the two copies of a chromosome formed during DNA replication) are joined together. The centromere contains highly repeated DNA sequences and proteins that form a complex structure known as the kinetochore, which serves as an attachment site for microtubules of the mitotic spindle during cell division.

During mitosis or meiosis, the kinetochore facilitates the movement of chromosomes by interacting with the microtubules, allowing for the accurate distribution of genetic material to the daughter cells. Centromeres can vary in their position and structure among different species, ranging from being located near the middle of the chromosome (metacentric) to being positioned closer to one end (acrocentric). The precise location and characteristics of centromeres are essential for proper chromosome segregation and maintenance of genomic stability.

Epistasis is a phenomenon in genetics where the effect of one gene (the "epistatic" gene) is modified by one or more other genes (the "modifier" genes). This interaction can result in different phenotypic expressions than what would be expected based on the individual effects of each gene.

In other words, epistasis occurs when the expression of one gene is influenced by the presence or absence of another gene. The gene that is being masked or modified is referred to as the hypostatic gene, while the gene doing the masking or modifying is called the epistatic gene.

Epistasis can take many forms and can be involved in complex genetic traits and diseases. It can also make it more difficult to map genes associated with certain traits or conditions because the phenotypic expression may not follow simple Mendelian inheritance patterns.

There are several types of epistasis, including recessive-recessive, dominant-recessive, and dominant-dominant epistasis. In recessive-recessive epistasis, for example, the presence of two copies of the epistatic gene prevents the expression of the hypostatic gene, even if the individual has two copies of the hypostatic gene.

Understanding epistasis is important in genetics because it can help researchers better understand the genetic basis of complex traits and diseases, as well as improve breeding programs for plants and animals.

Human chromosome pair 18 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Chromosomes are made up of DNA, protein, and RNA, and they carry genetic information that determines an individual's physical characteristics, biochemical processes, and susceptibility to disease.

Chromosome pair 18 is one of the 23 pairs of chromosomes that make up the human genome. Each member of chromosome pair 18 has a length of about 75 million base pairs and contains around 600 genes. Chromosome pair 18 is also known as the "smart chromosome" because it contains many genes involved in brain development, function, and cognition.

Abnormalities in chromosome pair 18 can lead to genetic disorders such as Edwards syndrome (trisomy 18), in which there is an extra copy of chromosome 18, or deletion of a portion of the chromosome, leading to various developmental and cognitive impairments.

Human chromosome pair 22 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosome pair 22 is one of the 22 autosomal pairs of human chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome 22 is the second smallest human chromosome, with each arm of the chromosome designated as p and q. The short arm is labeled "p," and the long arm is labeled "q."

Chromosome 22 contains several genes that are associated with various genetic disorders, including DiGeorge syndrome, velocardiofacial syndrome, and cat-eye syndrome, which result from deletions or duplications of specific regions on the chromosome. Additionally, chromosome 22 is the location of the NRXN1 gene, which has been associated with an increased risk for autism spectrum disorder (ASD) and schizophrenia when deleted or disrupted.

Understanding the genetic makeup of human chromosome pair 22 can provide valuable insights into human genetics, evolution, and disease susceptibility, as well as inform medical diagnoses, treatments, and research.

Human chromosome pair 8 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure known as a chromatin.

Human cells have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 8 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 8 has a similar size, shape, and banding pattern, and they are identical in males and females.

Chromosome pair 8 contains several genes that are essential for various cellular functions and human development. Some of the genes located on chromosome pair 8 include those involved in the regulation of metabolism, nerve function, immune response, and cell growth and division.

Abnormalities in chromosome pair 8 can lead to genetic disorders such as Wolf-Hirschhorn syndrome, which is caused by a partial deletion of the short arm of chromosome 4, or partial trisomy 8, which results from an extra copy of all or part of chromosome 8. Both of these conditions are associated with developmental delays, intellectual disability, and various physical abnormalities.

Cosmids are a type of cloning vector, which are self-replicating DNA molecules that can be used to introduce foreign DNA fragments into a host organism. Cosmids are plasmids that contain the cos site from bacteriophage λ, allowing them to be packaged into bacteriophage heads during an in vitro packaging reaction. This enables the transfer of large DNA fragments (up to 45 kb) into a host cell through transduction. Cosmids are widely used in molecular biology for the construction and analysis of genomic libraries, physical mapping, and DNA sequencing.

I'm sorry for any confusion, but the term "Lotus" does not have a specific medical definition in the context of human health or medicine. The lotus is a flowering plant that is often used as a symbol in various cultural and spiritual contexts, but it does not directly relate to medical terminology. If you have any questions related to medical topics, I'd be happy to help answer those!

A multigene family is a group of genetically related genes that share a common ancestry and have similar sequences or structures. These genes are arranged in clusters on a chromosome and often encode proteins with similar functions. They can arise through various mechanisms, including gene duplication, recombination, and transposition. Multigene families play crucial roles in many biological processes, such as development, immunity, and metabolism. Examples of multigene families include the globin genes involved in oxygen transport, the immune system's major histocompatibility complex (MHC) genes, and the cytochrome P450 genes associated with drug metabolism.

An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.

For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.

Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.

Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.

Restriction mapping is a technique used in molecular biology to identify the location and arrangement of specific restriction endonuclease recognition sites within a DNA molecule. Restriction endonucleases are enzymes that cut double-stranded DNA at specific sequences, producing fragments of various lengths. By digesting the DNA with different combinations of these enzymes and analyzing the resulting fragment sizes through techniques such as agarose gel electrophoresis, researchers can generate a restriction map - a visual representation of the locations and distances between recognition sites on the DNA molecule. This information is crucial for various applications, including cloning, genome analysis, and genetic engineering.

Chromosome segregation is the process that occurs during cell division (mitosis or meiosis) where replicated chromosomes are separated and distributed equally into two daughter cells. Each chromosome consists of two sister chromatids, which are identical copies of genetic material. During chromosome segregation, these sister chromatids are pulled apart by a structure called the mitotic spindle and moved to opposite poles of the cell. This ensures that each new cell receives one copy of each chromosome, preserving the correct number and composition of chromosomes in the organism.

Southern blotting is a type of membrane-based blotting technique that is used in molecular biology to detect and locate specific DNA sequences within a DNA sample. This technique is named after its inventor, Edward M. Southern.

In Southern blotting, the DNA sample is first digested with one or more restriction enzymes, which cut the DNA at specific recognition sites. The resulting DNA fragments are then separated based on their size by gel electrophoresis. After separation, the DNA fragments are denatured to convert them into single-stranded DNA and transferred onto a nitrocellulose or nylon membrane.

Once the DNA has been transferred to the membrane, it is hybridized with a labeled probe that is complementary to the sequence of interest. The probe can be labeled with radioactive isotopes, fluorescent dyes, or chemiluminescent compounds. After hybridization, the membrane is washed to remove any unbound probe and then exposed to X-ray film (in the case of radioactive probes) or scanned (in the case of non-radioactive probes) to detect the location of the labeled probe on the membrane.

The position of the labeled probe on the membrane corresponds to the location of the specific DNA sequence within the original DNA sample. Southern blotting is a powerful tool for identifying and characterizing specific DNA sequences, such as those associated with genetic diseases or gene regulation.

A genomic library is a collection of cloned DNA fragments that represent the entire genetic material of an organism. It serves as a valuable resource for studying the function, organization, and regulation of genes within a given genome. Genomic libraries can be created using different types of vectors, such as bacterial artificial chromosomes (BACs), yeast artificial chromosomes (YACs), or plasmids, to accommodate various sizes of DNA inserts. These libraries facilitate the isolation and manipulation of specific genes or genomic regions for further analysis, including sequencing, gene expression studies, and functional genomics research.

Molecular cloning is a laboratory technique used to create multiple copies of a specific DNA sequence. This process involves several steps:

1. Isolation: The first step in molecular cloning is to isolate the DNA sequence of interest from the rest of the genomic DNA. This can be done using various methods such as PCR (polymerase chain reaction), restriction enzymes, or hybridization.
2. Vector construction: Once the DNA sequence of interest has been isolated, it must be inserted into a vector, which is a small circular DNA molecule that can replicate independently in a host cell. Common vectors used in molecular cloning include plasmids and phages.
3. Transformation: The constructed vector is then introduced into a host cell, usually a bacterial or yeast cell, through a process called transformation. This can be done using various methods such as electroporation or chemical transformation.
4. Selection: After transformation, the host cells are grown in selective media that allow only those cells containing the vector to grow. This ensures that the DNA sequence of interest has been successfully cloned into the vector.
5. Amplification: Once the host cells have been selected, they can be grown in large quantities to amplify the number of copies of the cloned DNA sequence.

Molecular cloning is a powerful tool in molecular biology and has numerous applications, including the production of recombinant proteins, gene therapy, functional analysis of genes, and genetic engineering.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

Nucleic acid hybridization is a process in molecular biology where two single-stranded nucleic acids (DNA, RNA) with complementary sequences pair together to form a double-stranded molecule through hydrogen bonding. The strands can be from the same type of nucleic acid or different types (i.e., DNA-RNA or DNA-cDNA). This process is commonly used in various laboratory techniques, such as Southern blotting, Northern blotting, polymerase chain reaction (PCR), and microarray analysis, to detect, isolate, and analyze specific nucleic acid sequences. The hybridization temperature and conditions are critical to ensure the specificity of the interaction between the two strands.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

Inbreeding, in a medical context, refers to the practice of mating closely related individuals within a given family or breeding population. This leads to an increased proportion of homozygous genes, meaning that the same alleles (versions of a gene) are inherited from both parents. As a result, recessive traits and disorders become more likely to be expressed because the necessary dominant allele may be absent.

In human medicine, consanguinity is the term often used instead of inbreeding, and it refers to relationships between individuals who share a common ancestor. Consanguinity increases the risk of certain genetic disorders due to the increased likelihood of sharing harmful recessive genes. The closer the relationship, the higher the risk.

In animal breeding, inbreeding can lead to reduced fertility, lower birth weights, higher infant mortality, and a decreased lifespan. It is crucial to maintain genetic diversity within populations to ensure their overall health and vigor.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Schizophrenia is a severe mental disorder characterized by disturbances in thought, perception, emotion, and behavior. It often includes hallucinations (usually hearing voices), delusions, paranoia, and disorganized speech and behavior. The onset of symptoms typically occurs in late adolescence or early adulthood. Schizophrenia is a complex, chronic condition that requires ongoing treatment and management. It significantly impairs social and occupational functioning, and it's often associated with reduced life expectancy due to comorbid medical conditions. The exact causes of schizophrenia are not fully understood, but research suggests that genetic, environmental, and neurodevelopmental factors play a role in its development.

Multiple Endocrine Neoplasia (MEN) is a group of inherited disorders characterized by the development of tumors in various endocrine glands, which can lead to overproduction of hormones. There are two main types: MEN type 1 and MEN type 2.

MEN type 1, also known as Wermer's syndrome, is caused by mutations in the MEN1 gene. It typically involves tumors in the parathyroid glands (leading to hyperparathyroidism), pancreas (often gastrinomas or insulinomas), and pituitary gland. Some individuals may also develop tumors in other organs, such as the adrenal glands, lungs, or thyroid gland.

MEN type 2, which includes MEN type 2A and MEN type 2B, is caused by mutations in the RET gene. MEN type 2A involves medullary thyroid carcinoma (MTC), pheochromocytomas (tumors of the adrenal glands), and parathyroid tumors. MEN type 2B includes MTC, pheochromocytomas, neuromas (nerve tissue tumors), and distinctive physical features such as a marfanoid habitus and mucosal neuromas.

Early detection and management of these tumors are crucial to prevent complications from hormone excess or tumor invasion. Regular screening and monitoring are recommended for individuals with MEN, even if they do not have symptoms. Treatment typically involves surgical removal of the affected glands or tumors, along with medications to manage hormonal imbalances.

Genetic techniques refer to a variety of methods and tools used in the field of genetics to study, manipulate, and understand genes and their functions. These techniques can be broadly categorized into those that allow for the identification and analysis of specific genes or genetic variations, and those that enable the manipulation of genes in order to understand their function or to modify them for therapeutic purposes.

Some examples of genetic analysis techniques include:

1. Polymerase Chain Reaction (PCR): a method used to amplify specific DNA sequences, allowing researchers to study small amounts of DNA.
2. Genome sequencing: the process of determining the complete DNA sequence of an organism's genome.
3. Genotyping: the process of identifying and analyzing genetic variations or mutations in an individual's DNA.
4. Linkage analysis: a method used to identify genetic loci associated with specific traits or diseases by studying patterns of inheritance within families.
5. Expression profiling: the measurement of gene expression levels in cells or tissues, often using microarray technology.

Some examples of genetic manipulation techniques include:

1. Gene editing: the use of tools such as CRISPR-Cas9 to modify specific genes or genetic sequences.
2. Gene therapy: the introduction of functional genes into cells or tissues to replace missing or nonfunctional genes.
3. Transgenic technology: the creation of genetically modified organisms (GMOs) by introducing foreign DNA into their genomes.
4. RNA interference (RNAi): the use of small RNA molecules to silence specific genes and study their function.
5. Induced pluripotent stem cells (iPSCs): the creation of stem cells from adult cells through genetic reprogramming, allowing for the study of development and disease in vitro.

Muscular dystrophies are a group of genetic disorders that primarily affect skeletal muscles, causing progressive weakness and degeneration. They are characterized by the lack or deficiency of a protein called dystrophin, which is essential for maintaining the integrity of muscle fibers. The most common form is Duchenne muscular dystrophy (DMD), but there are many other types with varying symptoms and severity. Over time, muscle wasting and weakness can lead to disability and shortened lifespan, depending on the type and progression of the disease. Treatment typically focuses on managing symptoms, maintaining mobility, and supporting quality of life.

Statistical models are mathematical representations that describe the relationship between variables in a given dataset. They are used to analyze and interpret data in order to make predictions or test hypotheses about a population. In the context of medicine, statistical models can be used for various purposes such as:

1. Disease risk prediction: By analyzing demographic, clinical, and genetic data using statistical models, researchers can identify factors that contribute to an individual's risk of developing certain diseases. This information can then be used to develop personalized prevention strategies or early detection methods.

2. Clinical trial design and analysis: Statistical models are essential tools for designing and analyzing clinical trials. They help determine sample size, allocate participants to treatment groups, and assess the effectiveness and safety of interventions.

3. Epidemiological studies: Researchers use statistical models to investigate the distribution and determinants of health-related events in populations. This includes studying patterns of disease transmission, evaluating public health interventions, and estimating the burden of diseases.

4. Health services research: Statistical models are employed to analyze healthcare utilization, costs, and outcomes. This helps inform decisions about resource allocation, policy development, and quality improvement initiatives.

5. Biostatistics and bioinformatics: In these fields, statistical models are used to analyze large-scale molecular data (e.g., genomics, proteomics) to understand biological processes and identify potential therapeutic targets.

In summary, statistical models in medicine provide a framework for understanding complex relationships between variables and making informed decisions based on data-driven insights.

Polyploidy is a condition in which a cell or an organism has more than two sets of chromosomes, unlike the typical diploid state where there are only two sets (one from each parent). Polyploidy can occur through various mechanisms such as errors during cell division, fusion of egg and sperm cells that have an abnormal number of chromosomes, or through the reproduction process in plants.

Polyploidy is common in the plant kingdom, where it often leads to larger size, increased biomass, and sometimes hybrid vigor. However, in animals, polyploidy is less common and usually occurs in only certain types of cells or tissues, as most animals require a specific number of chromosomes for normal development and reproduction. In humans, polyploidy is typically not compatible with life and can lead to developmental abnormalities and miscarriage.

Genetic association studies are a type of epidemiological research that aims to identify statistical associations between genetic variations and particular traits or diseases. These studies typically compare the frequency of specific genetic markers, such as single nucleotide polymorphisms (SNPs), in individuals with a given trait or disease to those without it.

The goal of genetic association studies is to identify genetic factors that contribute to the risk of developing common complex diseases, such as diabetes, heart disease, or cancer. By identifying these genetic associations, researchers hope to gain insights into the underlying biological mechanisms of these diseases and develop new strategies for prevention, diagnosis, and treatment.

It's important to note that while genetic association studies can identify statistical associations between genetic markers and traits or diseases, they cannot prove causality. Further research is needed to confirm and validate these findings and to understand the functional consequences of the identified genetic variants.

The Major Histocompatibility Complex (MHC) is a group of cell surface proteins in vertebrates that play a central role in the adaptive immune system. They are responsible for presenting peptide antigens to T-cells, which helps the immune system distinguish between self and non-self. The MHC is divided into two classes:

1. MHC Class I: These proteins present endogenous (intracellular) peptides to CD8+ T-cells (cytotoxic T-cells). The MHC class I molecule consists of a heavy chain and a light chain, together with an antigenic peptide.

2. MHC Class II: These proteins present exogenous (extracellular) peptides to CD4+ T-cells (helper T-cells). The MHC class II molecule is composed of two heavy chains and two light chains, together with an antigenic peptide.

MHC genes are highly polymorphic, meaning there are many different alleles within a population. This diversity allows for better recognition and presentation of various pathogens, leading to a more robust immune response. The term "histocompatibility" refers to the compatibility between donor and recipient MHC molecules in tissue transplantation. Incompatible MHC molecules can lead to rejection of the transplanted tissue due to an activated immune response against the foreign MHC antigens.

Molecular sequence annotation is the process of identifying and describing the characteristics, functional elements, and relevant information of a DNA, RNA, or protein sequence at the molecular level. This process involves marking the location and function of various features such as genes, regulatory regions, coding and non-coding sequences, intron-exon boundaries, promoters, introns, untranslated regions (UTRs), binding sites for proteins or other molecules, and post-translational modifications in a given molecular sequence.

The annotation can be manual, where experts curate and analyze the data to predict features based on biological knowledge and experimental evidence. Alternatively, computational methods using various bioinformatics tools and algorithms can be employed for automated annotation. These tools often rely on comparative analysis, pattern recognition, and machine learning techniques to identify conserved sequence patterns, motifs, or domains that are associated with specific functions.

The annotated molecular sequences serve as valuable resources in genomic and proteomic studies, contributing to the understanding of gene function, evolutionary relationships, disease associations, and biotechnological applications.

"Butterflies" is not a medical term, but rather a colloquial or informal term that is often used to describe a feeling of nervousness or excitement in the stomach. It is thought to be due to the release of adrenaline and the increased heart rate and breathing that can occur when someone is anxious or excited. The sensation may be caused by the contraction of the muscles in the stomach, which can feel like fluttering or flips. This feeling is not a medical condition and does not typically require treatment, but if it is severe or persistent, it may be helpful to speak with a healthcare provider to address any underlying anxiety or stress.

Gene order, in the context of genetics and genomics, refers to the specific sequence or arrangement of genes along a chromosome. The order of genes on a chromosome is not random, but rather, it is highly conserved across species and is often used as a tool for studying evolutionary relationships between organisms.

The study of gene order has also provided valuable insights into genome organization, function, and regulation. For example, the clustering of genes that are involved in specific pathways or functions can provide information about how those pathways or functions have evolved over time. Similarly, the spatial arrangement of genes relative to each other can influence their expression levels and patterns, which can have important consequences for phenotypic traits.

Overall, gene order is an important aspect of genome biology that continues to be a focus of research in fields such as genomics, genetics, evolutionary biology, and bioinformatics.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Single-Stranded Conformational Polymorphism (SSCP) is not a medical condition but rather a laboratory technique used in molecular biology and genetics. It refers to the phenomenon where a single-stranded DNA or RNA molecule can adopt different conformations or shapes based on its nucleotide sequence, even if the difference in the sequence is as small as a single base pair change. This property is used in SSCP analysis to detect mutations or variations in DNA or RNA sequences.

In SSCP analysis, the denatured single-stranded DNA or RNA sample is subjected to electrophoresis on a non-denaturing polyacrylamide gel. The different conformations of the single-stranded molecules migrate at different rates in the gel, creating multiple bands that can be visualized by staining or other detection methods. The presence of additional bands or shifts in band patterns can indicate the presence of a sequence variant or mutation.

SSCP analysis is often used as a screening tool for genetic diseases, cancer, and infectious diseases to identify genetic variations associated with these conditions. However, it has largely been replaced by more sensitive and accurate methods such as next-generation sequencing.

The term "European Continental Ancestry Group" is a medical/ethnic classification that refers to individuals who trace their genetic ancestry to the continent of Europe. This group includes people from various ethnic backgrounds and nationalities, such as Northern, Southern, Eastern, and Western European descent. It is often used in research and medical settings for population studies or to identify genetic patterns and predispositions to certain diseases that may be more common in specific ancestral groups. However, it's important to note that this classification can oversimplify the complex genetic diversity within and between populations, and should be used with caution.

Molecular evolution is the process of change in the DNA sequence or protein structure over time, driven by mechanisms such as mutation, genetic drift, gene flow, and natural selection. It refers to the evolutionary study of changes in DNA, RNA, and proteins, and how these changes accumulate and lead to new species and diversity of life. Molecular evolution can be used to understand the history and relationships among different organisms, as well as the functional consequences of genetic changes.

Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.

In medical terms, "breeding" is not a term that is commonly used. It is more frequently used in the context of animal husbandry to refer to the process of mating animals in order to produce offspring with specific desired traits or characteristics. In human medicine, the term is not typically applied to people and instead, related concepts such as reproduction, conception, or pregnancy are used.

Neurofibromatosis 1 (NF1) is a genetic disorder that affects the development and growth of nerve tissue. It's also known as von Recklinghausen disease. NF1 is characterized by the growth of non-cancerous tumors on the nerves, as well as skin and bone abnormalities.

The symptoms of Neurofibromatosis 1 can vary widely, even among members of the same family. Some common features include:

* Multiple café au lait spots (flat, light brown patches on the skin)
* Freckles in the underarms and groin area
* Benign growths on or under the skin called neurofibromas
* Larger, more complex tumors called plexiform neurofibromas
* Optic gliomas (tumors that form on the optic nerve)
* Distinctive bone abnormalities, such as a curved spine (scoliosis) or an enlarged head (macrocephaly)
* Learning disabilities and behavioral problems

Neurofibromatosis 1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, the production of neurofibromin is reduced or absent, leading to uncontrolled cell growth and the development of tumors.

NF1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, about half of all cases are the result of new mutations in the NF1 gene, and occur in people with no family history of the disorder.

There is currently no cure for Neurofibromatosis 1, but treatments are available to manage the symptoms and complications of the disease. These may include medications to control pain or reduce the size of tumors, surgery to remove tumors or correct bone abnormalities, and physical therapy to improve mobility and strength. Regular monitoring by a healthcare team experienced in treating Neurofibromatosis 1 is also important to detect any changes in the condition and provide appropriate care.

Oncorhynchus mykiss is the scientific name for a species of fish that is commonly known as the Rainbow Trout. According to the medical or clinical definition provided by the US National Library of Medicine, Oncorhynchus mykiss is "a freshwater fish that is widely cultured and an important food source in many parts of the world." It is also a popular game fish and is often stocked in lakes and rivers for recreational fishing. Rainbow trout are native to cold-water tributaries that flow into the Pacific Ocean in Asia and North America. They have been introduced widely throughout the world and can now be found in freshwater systems on every continent except Antarctica. Rainbow trout are a valuable species for both commercial and recreational fisheries, and they also play an important role in the food web as both predators and prey.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Repetitive sequences in nucleic acid refer to repeated stretches of DNA or RNA nucleotide bases that are present in a genome. These sequences can vary in length and can be arranged in different patterns such as direct repeats, inverted repeats, or tandem repeats. In some cases, these repetitive sequences do not code for proteins and are often found in non-coding regions of the genome. They can play a role in genetic instability, regulation of gene expression, and evolutionary processes. However, certain types of repeat expansions have been associated with various neurodegenerative disorders and other human diseases.

The term "family" in a medical context often refers to a group of individuals who are related by blood, marriage, or adoption and who consider themselves to be a single household. This can include spouses, parents, children, siblings, grandparents, and other extended family members. In some cases, the term may also be used more broadly to refer to any close-knit group of people who provide emotional and social support for one another, regardless of their biological or legal relationship.

In healthcare settings, understanding a patient's family dynamics can be important for providing effective care. Family members may be involved in decision-making about medical treatments, providing care and support at home, and communicating with healthcare providers. Additionally, cultural beliefs and values within families can influence health behaviors and attitudes towards medical care, making it essential for healthcare professionals to take a culturally sensitive approach when working with patients and their families.

Inbred strains of mice are defined as lines of mice that have been brother-sister mated for at least 20 consecutive generations. This results in a high degree of homozygosity, where the mice of an inbred strain are genetically identical to one another, with the exception of spontaneous mutations.

Inbred strains of mice are widely used in biomedical research due to their genetic uniformity and stability, which makes them useful for studying the genetic basis of various traits, diseases, and biological processes. They also provide a consistent and reproducible experimental system, as compared to outbred or genetically heterogeneous populations.

Some commonly used inbred strains of mice include C57BL/6J, BALB/cByJ, DBA/2J, and 129SvEv. Each strain has its own unique genetic background and phenotypic characteristics, which can influence the results of experiments. Therefore, it is important to choose the appropriate inbred strain for a given research question.

Fabaceae is the scientific name for a family of flowering plants commonly known as the legume, pea, or bean family. This family includes a wide variety of plants that are important economically, agriculturally, and ecologically. Many members of Fabaceae have compound leaves and produce fruits that are legumes, which are long, thin pods that contain seeds. Some well-known examples of plants in this family include beans, peas, lentils, peanuts, clover, and alfalfa.

In addition to their importance as food crops, many Fabaceae species have the ability to fix nitrogen from the atmosphere into the soil through a symbiotic relationship with bacteria that live in nodules on their roots. This makes them valuable for improving soil fertility and is one reason why they are often used in crop rotation and as cover crops.

It's worth noting that Fabaceae is sometimes still referred to by its older scientific name, Leguminosae.

Biological evolution is the change in the genetic composition of populations of organisms over time, from one generation to the next. It is a process that results in descendants differing genetically from their ancestors. Biological evolution can be driven by several mechanisms, including natural selection, genetic drift, gene flow, and mutation. These processes can lead to changes in the frequency of alleles (variants of a gene) within populations, resulting in the development of new species and the extinction of others over long periods of time. Biological evolution provides a unifying explanation for the diversity of life on Earth and is supported by extensive evidence from many different fields of science, including genetics, paleontology, comparative anatomy, and biogeography.

Genetic selection, also known as natural selection, is a fundamental mechanism of evolution. It refers to the process by which certain heritable traits become more or less common in a population over successive generations due to differential reproduction of organisms with those traits.

In genetic selection, traits that increase an individual's fitness (its ability to survive and reproduce) are more likely to be passed on to the next generation, while traits that decrease fitness are less likely to be passed on. This results in a gradual change in the distribution of traits within a population over time, leading to adaptation to the environment and potentially speciation.

Genetic selection can occur through various mechanisms, including viability selection (differential survival), fecundity selection (differences in reproductive success), and sexual selection (choices made by individuals during mating). The process of genetic selection is driven by environmental pressures, such as predation, competition for resources, and changes in the availability of food or habitat.

Artificial chromosomes, yeast are synthetic chromosomes that have been created in the laboratory and can function in yeast cells. They are made up of DNA sequences that have been chemically synthesized or engineered from existing yeast chromosomes. These artificial chromosomes can be used to introduce new genes or modify existing ones in yeast, allowing for the study of gene function and genetic interactions in a controlled manner.

The creation of artificial chromosomes in yeast has been an important tool in biotechnology and synthetic biology, enabling the development of novel industrial processes and the engineering of yeast strains with enhanced properties for various applications, such as biofuel production or the manufacture of pharmaceuticals. Additionally, the study of artificial chromosomes in yeast has provided valuable insights into the fundamental principles of genome organization, replication, and inheritance.

In the context of medicine and healthcare, 'probability' does not have a specific medical definition. However, in general terms, probability is a branch of mathematics that deals with the study of numerical quantities called probabilities, which are assigned to events or sets of events. Probability is a measure of the likelihood that an event will occur. It is usually expressed as a number between 0 and 1, where 0 indicates that the event is impossible and 1 indicates that the event is certain to occur.

In medical research and statistics, probability is often used to quantify the uncertainty associated with statistical estimates or hypotheses. For example, a p-value is a probability that measures the strength of evidence against a hypothesis. A small p-value (typically less than 0.05) suggests that the observed data are unlikely under the assumption of the null hypothesis, and therefore provides evidence in favor of an alternative hypothesis.

Probability theory is also used to model complex systems and processes in medicine, such as disease transmission dynamics or the effectiveness of medical interventions. By quantifying the uncertainty associated with these models, researchers can make more informed decisions about healthcare policies and practices.

I'm sorry for any confusion, but "soybeans" are not a medical term. They are a type of legume that is commonly used in agriculture and food production. The medical community might discuss soybeans in the context of nutrition or allergies, but there isn't a formal medical definition for this term.

Here's some general information: Soybeans, scientifically known as Glycine max, are native to East Asia and are now grown worldwide. They are a significant source of plant-based protein and oil. Soybeans contain various nutrients, including essential amino acids, fiber, B vitamins, and minerals like calcium, iron, magnesium, and zinc. They are used in various food products such as tofu, soy milk, tempeh, and miso. Additionally, soybeans are also used in the production of industrial products, including biodiesel, plastics, and inks. Some people may have allergic reactions to soybeans or soy products.

Bacterial chromosomes are typically circular, double-stranded DNA molecules that contain the genetic material of bacteria. Unlike eukaryotic cells, which have their DNA housed within a nucleus, bacterial chromosomes are located in the cytoplasm of the cell, often associated with the bacterial nucleoid.

Bacterial chromosomes can vary in size and structure among different species, but they typically contain all of the genetic information necessary for the survival and reproduction of the organism. They may also contain plasmids, which are smaller circular DNA molecules that can carry additional genes and can be transferred between bacteria through a process called conjugation.

One important feature of bacterial chromosomes is their ability to replicate rapidly, allowing bacteria to divide quickly and reproduce in large numbers. The replication of the bacterial chromosome begins at a specific origin point and proceeds in opposite directions until the entire chromosome has been copied. This process is tightly regulated and coordinated with cell division to ensure that each daughter cell receives a complete copy of the genetic material.

Overall, the study of bacterial chromosomes is an important area of research in microbiology, as understanding their structure and function can provide insights into bacterial genetics, evolution, and pathogenesis.

Recombination frequency is a measure of genetic linkage and is used in the creation of a genetic linkage map. Recombination ... A linkage map is not a physical map (such as a radiation reduced hybrid map) or gene map. Linkage analysis is a genetic method ... Linkage maps help researchers to locate other markers, such as other genes by testing for genetic linkage of the already known ... A linkage map (also known as a genetic map) is a table for a species or experimental population that shows the position of its ...
Genetic Linkage is the tendency of alleles, which are located closely together on a chromosome, to be inherited together during ... "The First Genetic-Linkage Map , Caltech". The California Institute of Technology. 21 March 2013. Retrieved 2016-03-26. Stahl, F ... Click Here for an interactive Hierarchical Clustering Demo) The idea of genetic linkage was first discovered by the British ... "7.3: Linkage Reduces Recombination Frequency". Biology LibreTexts. 2016-06-03. Retrieved 2021-08-28. "Genetic Recombination and ...
Initial research on genetic heterogeneity was conducted using genetic linkage analyses, which map genetic loci of related ... 8 (1): 6. doi:10.1016/S1672-2930(13)50002-X. Teare, Dawn; Barrett, Jennifer (September 15, 2005). "Genetic linkage studies". ... Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms. There ... Disorders on the Autism spectrum have high levels of genetic heterogeneity and result from multiple genetic pathways including ...
Linkage studies aimed at identifying specific genetic loci that have a moderate to large effect on risk Genetic linkage occurs ... "linkage , Learn Science at Scitable". www.nature.com. Retrieved 2021-11-05. "3.10: Genetic Linkage". Biology LibreTexts. 2016- ... In genetic epidemiology, family studies are studies of whether a disease or trait "runs in a family". In other words, they are ... Chromosomes carry genetic information across all of it, each gene having its specific location and position. There are 40,000 ...
"Genetic linkage & mapping". Khan Academy. AMGEN Foundation. Retrieved 2021-03-29. (Genetics). ...
USP9Y Genetic linkage Sex linkage X linkage "Definition of holandric , Dictionary.com". www.dictionary.com. Retrieved 2020-01- ... Y linkage is similar to, but different from X linkage; although, both are forms of sex linkage. X linkage can be genetically ... "Y-linkage and pseudoautosomal linkage". Am J Hum Genet. 38 (6): 891-7. PMC 1684847. PMID 3728465. Wang, Qiuju (2013). "Genetic ... It is a form of sex linkage. Y linkage can be difficult to detect. This is partly because the Y chromosome is small and ...
The early genetic research focused on linkage distance between various gross phenotypes using linkage analysis. Between 1924 ... Castle, W. E.; Sawin, P. B. (1941). "Genetic linkage in the rabbit". Proceedings of the National Academy of Sciences. 27 (11): ... Each of these groups has different needs for genetic information. In the biomedical research community and the pharmaceutical ... Carneiro, M. (2011). "The Genetic Structure of Domestic Rabbits". Molecular Biology and Evolution. 28 (6): 1801-1816. doi: ...
Martins, Jean P.; Fonseca, Carlos M.; Delbem, Alexandre C. B. (25 December 2014). "On the performance of linkage-tree genetic ... ISBN 978-3-540-23774-7. Thierens, Dirk (11 September 2010). "The Linkage Tree Genetic Algorithm". Parallel Problem Solving from ... Genetic algorithms have been used to optimize computer programs, called genetic programming, and today they are also applied to ... Genetic algorithms initially consisted of an input population of individuals encoded as fixed-length bit strings, the genetic ...
Ott, Jurg (1999). Analysis of human genetic linkage. Baltimore: Johns Hopkins University Press. ISBN 978-0-8018-6140-6. OCLC ...
Castle, WE; Sawin, PB (1941). "Genetic linkage in the rabbit". Proceedings of the National Academy of Sciences. 27 (11): 519- ... Of the 3 genetic sources of rex rabbits, the one due to the gene r1 is the most popular with fanciers and has the simple ... It was not linked with any other genes known at the time although it was eventually found to be in the same linkage group as r2 ... The diversity of genetic factors results in variable coat thickness/density and fur length. A great variety exists within rex ...
Disease gene identification Association mapping Family based QTL mapping Genetic epidemiology Genetic linkage Genome-wide ... this is known as genetic linkage.[citation needed] Linkage disequilibrium (LD) is a term used in the study of population ... A list of computer programs for genetic analysis including genetic association analysis GWAS Central - a central database of ... Genetic association studies are performed to determine whether a genetic variant is associated with a disease or trait: if ...
Genetic linkage analysis has been inconclusive; many association analyses have had inadequate power. Studies have examined more ... As late as the mid-1970s there was little evidence of a genetic role in autism; evidence from genetic epidemiology studies now ... It has been shown to be related to genetic disorders and with epilepsy. ASD is believed to be largely inherited, although the ... Trottier G, Srivastava L, Walker CD (March 1999). "Etiology of infantile autism: a review of recent advances in genetic and ...
Lobo I, Shaw K (2008). "Discovery and Types of Genetic Linkage". Nature Education Knowledge. SciTable. Nature Publishing Group ... The genetic variation in relative frequencies of different alleles in a population is due to both natural selection and genetic ... The related term synthetic biology is sometimes used to refer to extensive genetic engineering of an organism. Genetic ... known as genetic linkage). Genes that are very close are essentially never separated because it is extremely unlikely that a ...
Penrose, L.S. (1938). "Genetic linkage in graded human characters". Annals of Eugenics. 8 (3): 233-7. doi:10.1111/j.1469- ... Genetic linkage analysis, All stub articles, Genetics stubs). ... A much earlier source of sib-pair linkage implementation was, ... Penrose, L.S. (1935). "The detection of autosomal linkage in data which consist of pairs of brothers and sisters of unspecified ... Haseman, J. K.; Elston, R. C. (March 1972). "The investigation of linkage between a quantitative trait and a marker locus". ...
He, Bateson and Saunders co-discovered genetic linkage through experiments with chickens and sweet peas. In 1908, unable to ... Lobo, Ingrid; Shaw, Kenna (2008). "Discovery and types of genetic linkage". Nature Education. 1 (1): 139. Retrieved 9 February ...
Siegmund, David (1998). "Genetic linkage analysis: An irregular statistical problem". Doc. Math. (Bielefeld) Extra Vol. ICM ...
"Welcome , Forensic DNA Profiling Facility" (PDF). Reis, Andre (1991). "PCR in Linkage Analysis of Genetic Diseases". PCR Topics ... Pathogen Identification High Throughput SNP Genotyping Mutation Analysis Gene Deletion Analysis Template Quantitation Linkage ...
This process is referred to sometimes as linkage analysis. By the 1990s ever advancing technology had made genetic analysis ... Tanzi RE (October 1991). "Genetic linkage studies of human neurodegenerative disorders". Current Opinion in Neurobiology. 1 (3 ... focusing in particular how the genetic code an organism carries affects its expressed traits. Mutations in this genetic ... The discovery of linkages could then lead to therapeutic drugs, which could reverse brain degeneration. One of the most ...
... is influenced by genetic linkage. Taylor, Duncan; Bright, Jo-Anne; Buckleton, John S. (2016). "Biological basis ...
This is the phenomenon of genetic linkage. The traits that the genes coded for will be coextensive in a population because the ... is wait around for the genetic material to be broken at just the right place, between the genes. Once this happens, Darwinian ... process Darwin discovered cannot tell the difference between these two genes or their traits until crossover breaks the linkage ...
... genetic linkage to chromosome 9q21". American Journal of Human Genetics. 61 (4): 899-908. doi:10.1086/514876. PMC 1715977. PMID ... clinical and genetic findings in three families from the Arabian peninsula". Movement Disorders. 18 (4): 403-7. doi:10.1002/mds ...
"The 1993-94 Généthon human genetic linkage map". Nature Genetics. 7 (2 Spec No): 246-339. doi:10.1038/ng0694supp-246. PMID ...
Genetic linkage is the phenomenon where by alleles at different loci cosegregate in families. The strength of cosegregation is ... CRC Press, Boca Raton, pp 145-161 Lander, E. S.; Green, P. (1987). "Construction of multilocus genetic linkage maps in humans ... Extended pedigree are attractive for linkage-based analysis. Linkage and association analysis are primary tools for gene ... In linkage studies, we seek to identify the loci that cosegregate with a specific genomic region, tagged by polymorphic markers ...
Fischer J, Bouadjar B, Heilig R, Fizames C, Prud'homme JF, Weissenbach J (1999). "Genetic linkage of Meleda disease to ...
... evidence for linkage and genetic heterogeneity". Human Molecular Genetics. 7 (13): 2073-8. doi:10.1093/hmg/7.13.2073. PMID ...
She continued to work on the genetic linkage map and led research into understanding the genetic basis of cystic fibrosis, ... Doniskeller, H (October 1987). "A genetic linkage map of the human genome". Cell. 51 (2): 319-337. doi:10.1016/0092-8674(87) ... National Academies Press (US). Group, NIH/CEPH Collaborative Mapping (1992). "A Comprehensive Genetic Linkage Map of the Human ... "A Genetic Linkage Map of the Human Genome" (PDF). Cell. 51 (2): 319-337. doi:10.1016/0092-8674(87)90158-9. PMID 3664638. S2CID ...
McKenzie L, Sillence D (January 1992). "Familial Scheuermann disease: a genetic and linkage study". Journal of Medical Genetics ...
"The 1993-94 Généthon human genetic linkage map". Nature Genetics. 7 (2 Spec No): 246-339. doi:10.1038/ng0694supp-246. PMID ... Hung RJ, Hall J, Brennan P, Boffetta P (Nov 2005). "Genetic polymorphisms in the base excision repair pathway and cancer risk: ...
"Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood". The ... aims to partition heritability by functional annotation by taking into account genetic linkage between markers. Levinson, ... Here, the "linkage disequilibrium score" for a SNP "is the sum of LD r2 measured with all other SNPs". LDSC can be used to ... In LDSC, genetic correlations are calculated based on the deviation between chi-square statistics and what would be expected ...
Genetic linkage analysis and association studies are widely used methods of identifying modifier loci. The advent of new ... Pulst SM (1999). "Genetic linkage analysis". Archives of Neurology. 56 (6): 667-72. doi:10.1001/archneur.56.6.667. PMID ... In an example of a familial linkage study, genotyping and linkage analysis conducted in a population of 197 sibpairs and their ... Genetic Modifiers of Huntington's Disease (GeM-HD) Consortium (2015). "Identification of Genetic Factors that Modify Clinical ...
Recombination frequency is a measure of genetic linkage and is used in the creation of a genetic linkage map. Recombination ... A linkage map is not a physical map (such as a radiation reduced hybrid map) or gene map. Linkage analysis is a genetic method ... Linkage maps help researchers to locate other markers, such as other genes by testing for genetic linkage of the already known ... A linkage map (also known as a genetic map) is a table for a species or experimental population that shows the position of its ...
Clear guidelines for the interpretation of linkage results are needed to avoid a flood of false positive claims. At the same ... Genetic studies are under way for many complex traits, spurred by the recent feasibility of whole genome scans. ... Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results Nat Genet. 1995 Nov;11(3):241-7 ... Genetic studies are under way for many complex traits, spurred by the recent feasibility of whole genome scans. Clear ...
... Genomics. 1994 ... Using HOMOG, no evidence was found for heterogeneity with the five Japanese families in whom linkage was reported. ...
GitHub - celaoforever/SHEsisPlus: a software package for analysis of genetic association, Hardy-weinberg equilibrium, linkage ... linkage disequilibrium and haplotype construction at multiallelic polymorphism loci, compatible for both diploid and polyploid ... a software package for analysis of genetic association, Hardy-weinberg equilibrium, ... For linkage disequilibrium analysis, pair-wise D and R2 are calculated. The higher two loci are in linkage disequilibrium, the ...
Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. ... Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. ...
Construction of dense genetic linkage maps of apple cultivars Kaşel-41and Williams Pride by simple sequence repeat markers ... MOTALEBIPOUR, ELMIRA ZIYA; KAFKAS, SALİH; ÖZONGUN, ŞERİF; and ATAY, AYŞE NİLGÜN (2015) "Construction of dense genetic linkage ...
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Shaun Purcell, Stacey S ... Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics, 19(1): ... article{PurcellCS03, title = {Genetic Power Calculator: design of linkage and association genetic mapping studies of complex ...
An ultra-high density genetic linkage map of perennial ryegrass (Lolium perenne) using genotyping by sequencing (GBS) based on ... An ultra-high density genetic linkage map of perennial ryegrass (Lolium perenne) using genotyping by sequencing (GBS) based on ... Printed from /publications/ultra-high-density-genetic-linkage-map-perennial-ryegrass-lolium-perenne-using on 02/10/23 04:29:06 ...
Evidence for genetic linkage between the ure and trh genes in Vibrio parahaemolyticus * Tetsuya Iida1, Orasa Suthienkul1,2, ... Evidence for genetic linkage between the ure and trh genes in Vibrio parahaemolyticus ... Clemens D. L., Lee B.-Y., Horwitz M. A. Purification, characterization, and genetic analysis of Mycobacterium tuberculosis ...
... their specific findings and the real genetic architecture of the disorder. The idea of genetic linkage studies is that if you ... Feel free to check my new blog out for some discussion of specific genetic linkage studies. It is a work in progress, but I ... Each time a new genetic linkage study comes out, it is often front page news that gene for schizophrenia has been found. We ... I would say that 3 decades of failed genetic linkage studies should at least raise the question of whether genes have anything ...
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately ... Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately ...
The objectives of the DLVitis project (ANR 2009-2011) are to assess genetic structure and linkage disequilibrium in V. vinifera ... Knowledge of the structure of genetic diversity and linkage disequilibrium (LD) is a necessary prerequisite to design ... but relatively few genetic resources are available in germplasm repositories and the genetic diversity of these species is ... Genetic diversity and structure will be assessed this year using SSRs, and a sample of 93 accessions will be defined for each ...
Introduction:Genes carry the trait information in an individual that determines the activity and physical features. Chromosomes are present within the nucleus of the cell in a condensed form, and they are made of DNA and proteins. There are only 23 pairs of chromosomes present in each cell. However, the number of genes present in 23
A linkage panel for large-fruited fresh-market tomato was also established using the combined dataset of the genetic map and 58 ... We constructed a novel fresh-market tomato genetic map by using 3614 single nucleotide polymorphism (SNP) markers and a 93 F2 ... The allelic information in the linkage panel will be a significant resource for both tomato genetics and future breeding ... the genetic map for the large-fruited fresh-market tomato (Solanum lycopersicum) has never been constructed, and the ...
Address about what? See current entry about expanded genetic testing. Well need many more genetic counselors. Thanks for ... An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all. ... When a Disease is Genetic but not Inherited: Bea Rienhoffs Story. July 4, 2013 ... who has a collection of unusual symptoms that dont fit any clinical diagnosis may in fact have a genetic disease - but one ...
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all. ... A challenge of living with a genetic disease, especially a very rare one, is that the mutation may affect different body parts ...
Genetic Linkage PubMed MeSh Term *Overview. Overview. subject area of * A High-Density SNP Map of Sunflower Derived from RAD- ... Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13. Journal Article ... Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Journal Article ... Genetic mapping of rust resistance genes in confection sunflower line HA-R6 and oilseed line RHA 397 Journal Article ...
... genetic programming, linked data, link discovery, duplicate detection, deduplication, record linkage reference ... Learning linkage rules using genetic programming Created by W.Langdon from gp-bibliography.bib Revision:1.7325 @InProceedings{ ... title = "Learning linkage rules using genetic programming", * author = "Robert Isele and Christian Bizer", * booktitle = " ... keywords = "genetic algorithms, genetic programming, linked data, link discovery, duplicate detection, deduplication, record ...
Use these implementations to study heterogeneity of genetic parameters in human males.. D. To investigate robustness of linkage ... The broad goals are 1. to provide robust, computationally feasible statistical methods for analysis of genetic linkage data, ... B. To improve assessment of uncertainty in ordering of genetic markers using a robust yet efficient method that does not rely ... These should further the goals of locating genetic loci involved in various human traits and diseases, and determine their ...
Genetic linkage in beef recording programmes. To enable accurate comparisons to be made between cattle reared in different ... it is important that there is genetic linkage between the contemporary groups in different recorded herds. ... Hutts Farm - High genetic merit rams enhance carcase value * Dupath Farm - Flock profitability influenced by carcase weight and ... Thistleyhaugh Farm - Genetic influences on carcase conformation shine through * Bowhill Farming - A clear financial benefit in ...
A deer (subfamily cervinae) genetic linkage map and the evolution of ruminant genomes. In: Genetics. 2002 ; Vol. 160, No. 4. pp ... A deer (subfamily cervinae) genetic linkage map and the evolution of ruminant genomes. / Slate, Jon; Van Stijn, Tracey C.; ... A deer (subfamily cervinae) genetic linkage map and the evolution of ruminant genomes. Genetics. 2002;160(4):1587-1597. ... Dive into the research topics of A deer (subfamily cervinae) genetic linkage map and the evolution of ruminant genomes. ...
Ataxia-telangiectasia: Linkage evidence for genetic heterogeneity [4]. E. Sobel*, E. Lange, N. G.J. Jaspers, L. Chessa, O. ... Ataxia-telangiectasia: Linkage evidence for genetic heterogeneity [4]. / Sobel, E.; Lange, E.; Jaspers, N. G.J. et al. In: ... Ataxia-telangiectasia: Linkage evidence for genetic heterogeneity [4]. American Journal of Human Genetics. 1992;50(6):1343-1348 ... Ataxia-telangiectasia : Linkage evidence for genetic heterogeneity [4]. In: American Journal of Human Genetics. 1992 ; Vol. 50 ...
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. ... Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. ... Adult, Aged, Anemia, Dyserythropoietic, Congenital, DNA Mutational Analysis, Female, Genetic Linkage, Glycoproteins, Humans, ...
Genetic linkage studies. Genome-wide genotyping using the Affymetrix 250k SNP microarrays in affected individuals II:5 and II:6 ... For linkage studies a genome-wide linkage scan was carried out in the affected individuals using Affymetrix 250k SNP ... Multipoint linkage analysis gave a maximum LOD score of 3.14 at D22S683. These findings were consistent with linkage to ... Molecular genetic studies. Genomic DNA from the four affected individuals, two unaffected siblings, and the mother were ...
Genetic dissection of resistance to gray leaf spot by combining genome-wide association, linkage mapping, and genomic ... Genetic dissection of resistance to gray leaf spot by combining genome-wide association, linkage mapping, and genomic ... Genetic dissection of resistance to gray leaf spot by combining genome-wide association, linkage mapping, and genomic ...
Genetic linkage studies suggest that Alzheimers disease is not a single homogeneous disorder. In: Nature. 1990 ; Vol. 347, No ... Two recent genetic linkage studies revealed co-segregation of familial Alzheimer disease with the D21S1/S11 and D21S16 loci on ... Genetic linkage studies suggest that Alzheimers disease is not a single homogeneous disorder. / St. George-Hyslop, P. H.; ... Genetic linkage studies suggest that Alzheimers disease is not a single homogeneous disorder. Nature. 1990;347(6289):194-197. ...
Genetic Linkage: From Rapid-Aging Disease to Common Heart Disease. December 3, 2012 ... Ricki is a genetic counselor and teaches "Genethics" online for the Alden March Bioethics Institute of Albany Medical College. ... Francis Collins became involved in the quest to discover the genetic defect that causes the rapid-aging disorder Hutchinson- ...
asymLD: Asymmetric Linkage Disequilibrium (ALD) for Polymorphic Genetic Data. Computes asymmetric LD measures (ALD) for multi- ... allelic genetic data. These measures are identical to the correlation measure (r) for bi-allelic data. ...
  • A linkage map is a map based on the frequencies of recombination between markers during crossover of homologous chromosomes. (wikipedia.org)
  • For well-studied organisms the linkage groups correspond one-to-one with the chromosomes. (wikipedia.org)
  • The idea of genetic linkage studies is that if you have a disease segregating in a particular family, you can use neutral genetic markers across the genome to look at the inheritance of different segments of chromosomes through the pedigree and track which ones co-segregate with the disease. (wiringthebrain.com)
  • A complete genetic map that covers all chromosomes within a species genome is important because it provides a resource for developing a consensus genetic map that can be a common framework for mapping studies. (ashs.org)
  • 2. New linkage maps of all the chromosomes are presented. (caltech.edu)
  • Genetic studies showed several years ago that the third chromosomes of wild strains of Drosophila pseudoobscura often carry suppressors of crossing-over. (caltech.edu)
  • ET has previously been mapped to genetic loci on chromosomes 2p and 3q, but no causative genes identified. (qxmd.com)
  • RESULTS: The strongest evidence for linkage was detected on chromosomes 13 (LOD 1.6). (ox.ac.uk)
  • When we confi ned analysis to samples from northeast- the summers of 2004, 2005, 2006, and 2007, as described ern states, we confi rmed linkage disequilibrium between ospC and IGS1 loci ( 7 , 10 , 14 ). (cdc.gov)
  • celaoforever/SHEsisPlus: a software package for analysis of genetic association, Hardy-weinberg equilibrium, linkage disequilibrium and haplotype construction at multiallelic polymorphism loci, compatible for both diploid and polyploid species. (github.com)
  • Knowledge of the structure of genetic diversity and linkage disequilibrium (LD) is a necessary prerequisite to design association genetics studies. (inrae.fr)
  • Evidence for significant linkage disequilibrium in this interval was also found. (elsevierpure.com)
  • Multiple markers in the region exhibit transmission disequilibrium, with the peak single marker multiallelic linkage disequilibrium noted at D1S490 (pedigree disequilibrium test [PDT] global P value = 0.0091). (elsevierpure.com)
  • The finding of linkage together with significant transmission disequilibrium provides strong evidence for a susceptibility locus at 1q41 in human SLE. (elsevierpure.com)
  • We noted the absence of significant linkage disequilibrium, and we inferred low levels of effective selection per locus against hybrids, suggesting that introgression in the area of species replacement occurred under a neutral diffusion process. (lu.se)
  • Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. (wikipedia.org)
  • A linkage map (also known as a genetic map) is a table for a species or experimental population that shows the position of its known genes or genetic markers relative to each other in terms of recombination frequency, rather than a specific physical distance along each chromosome. (wikipedia.org)
  • Genetic maps depict the location of genetic markers on chromosome(s), with the distance between two flanking markers on the same chromosome dependent on genetic recombination. (ashs.org)
  • Five of these lie in the X-chromosome, and a study of their linkage relations was shown to indicate that the sequence of the five loci concerned is the same in both species, and that the percentages of crossing over in comparable regions, while not indentical, is still not very different. (caltech.edu)
  • Two recent genetic linkage studies revealed co-segregation of familial Alzheimer disease with the D21S1/S11 and D21S16 loci on chromosome 21 (refs 3,4). (mssm.edu)
  • Our data suggest that Alzheimer's disease is not a single entity, but rather results from genetic defects on chromosome 21 and from other genetic or nongenetic factors. (mssm.edu)
  • We have constructed a genetic linkage map of 17 markers on the long arm of human chromosome 21, including six genes and two anonymous loci with a variable number of tandem repeats. (johnshopkins.edu)
  • Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. (qxmd.com)
  • A multigenerational family revealed suggestive linkage to a locus on chromosome 6p23 with maximal nonparametric linkage (NPL) multipoint score 3.281 (P = 0.0005) and parametric multipoint log of the odds (LOD) score 2.983. (qxmd.com)
  • Our findings provide evidence for linkage to a novel susceptibility locus on chromosome 6p23. (qxmd.com)
  • Genotyping excluded linkage to the MCDR1 locus and suggested a potential novel disease locus on chromosome 14q (Z=2.92 at θ=0 for marker D14S261). (elsevierpure.com)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • The allelic information in the linkage panel will be a significant resource for both tomato genetics and future breeding approaches. (ashs.org)
  • Genetic maps saturated with genetic markers are useful for genetic research to identify new genes/quantitative trait loci (QTL), and for genomics research concerned with genome sequence. (ashs.org)
  • Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci. (colorado.edu)
  • These should further the goals of locating genetic loci involved in various human traits and diseases, and determine their effects and modes of inheritance. (uchicago.edu)
  • A genome-wide linkage analysis was performed to localise Quantitative trait loci influencing BMI in a large cohort collected in the PROCARDIS coronary heart disease study consisting of 1,812 informative families. (ox.ac.uk)
  • The family manifested no linkage to the p53 gene (a two-point LOD-score of -0.41), and has previously also been excluded for linkage to the BRCA1 and BRCA2 loci, as well as being carrier of a BRCA1 germline mutation. (lu.se)
  • Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more linked than markers that are far apart. (wikipedia.org)
  • The greater the frequency of recombination (segregation) between two genetic markers, the further apart they are assumed to be. (wikipedia.org)
  • Linkage maps help researchers to locate other markers, such as other genes by testing for genetic linkage of the already known markers. (wikipedia.org)
  • We constructed a novel fresh-market tomato genetic map by using 3614 single nucleotide polymorphism (SNP) markers and a 93 F 2 segregating progeny derived from a cross between two United States large-fruited fresh-market tomato lines. (ashs.org)
  • In genetic maps, genes with known functions or DNA fragments can be used as genetic markers and their inheritance can be traced. (ashs.org)
  • The most common genetic markers used in recent years have been DNA markers, but morphological markers are still used for a number of traits [e.g., tomato jointless pedicel ( Butler, 1936 )], which can be readily validated by observation. (ashs.org)
  • Recent advances in genotyping technologies have made it possible to create genetic maps and exploit genetic linkage between markers and traits with unprecedented resolution. (ashs.org)
  • B. To improve assessment of uncertainty in ordering of genetic markers using a robust yet efficient method that does not rely on strong assumptions about interference. (uchicago.edu)
  • Evidence for moving hybrid zones has been directly inferred by repeated sampling over time, or indirectly through the detection of genetic footprints left by the receding species and the resulting asymmetric patterns of introgression across markers. (lu.se)
  • Using HOMOG, no evidence was found for heterogeneity with the five Japanese families in whom linkage was reported. (nih.gov)
  • Use these implementations to study heterogeneity of genetic parameters in human males. (uchicago.edu)
  • Inherited cataracts demonstrate extreme genetic heterogeneity, with more than 20 genes identified to date. (molvis.org)
  • Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (ox.ac.uk)
  • Our results confirm the substantial genetic heterogeneity influencing BMI regulation that has emerged from the majority of genome scans so far published. (ox.ac.uk)
  • Positional candidate gene and genetic linkage strategies utilising polymerase chain reaction (PCR) based microsatellite marker genotyping were performed to identify the disease locus. (elsevierpure.com)
  • For 741 Ixodes ticks from northeastern and north-cen- the extent of genomewide genetic exchange in this spe- tral United States or from northern California, 1 ospC allele cies may have been underestimated ( 6 ). (cdc.gov)
  • Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13. (colorado.edu)
  • We conducted genomewide linkage screening with subsequent fine mapping in seven large North American families comprising a total of 325 genotyped individuals that included 65 patients diagnosed as definite ET. (qxmd.com)
  • Genetic studies are under way for many complex traits, spurred by the recent feasibility of whole genome scans. (nih.gov)
  • We examine a Bayesian Markov-chain Monte Carlo framework for simultaneous segregation and linkage analysis in the simulated single- nucleotide polymorphism data provided for Genetic Analysis Workshop 16. (bvsalud.org)
  • 20 infected I. pacifi cus adults from Contra Costa County, Genetic Locus California (J. Bunikis and A.G. Barbour, unpub. (cdc.gov)
  • Among these, the 1q41 locus is of particular interest, because evidence for linkage has been found in several independent SLE family collections. (elsevierpure.com)
  • CONCLUSION: Our study did not find any locus with strongly supporting evidence for linkage to BMI even in such a large sample. (ox.ac.uk)
  • The different organizations may be due to the presence of various genetic elements involved in cointegration, recombination, and rearrangements. (nofima.no)
  • however, the genetic map for the large-fruited fresh-market tomato ( Solanum lycopersicum ) has never been constructed, and the recombination frequency between DNA fragments is only partly understood for fresh-market tomato. (ashs.org)
  • We also compared these results with variance-component linkage analysis and regression analyses . (bvsalud.org)
  • METHODS: Multipoint linkage analysis for BMI was conducted using both a variance component approach and a model-free regression method, and the resulting LOD scores were compared. (ox.ac.uk)
  • Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. (cnrs.fr)
  • These data confirm the modest evidence for linkage at 1q41 in our family collection (LOD = 1.21 at marker D1S2616). (elsevierpure.com)
  • Dr. Zarbl is known for his work in areas of toxicogenomics, and mechanisms of and genetic susceptibility to chemical carcinogenesis, mechanisms of mutagenesis and toxicity, and technology development. (cdc.gov)
  • Antimicrobial susceptibility testing, molecular typing, characterization of ESBL-encoding genes and the genetic environment, conjugation experiments and plasmid analysis were carried out. (who.int)
  • Molecular and genetic studies indicated different structural arrangements of blaZ and qacA/B, including variable intergenic distances and transcriptional directions of the two genes on the same plasmid within the strains. (nofima.no)
  • Why have genetic linkage studies of schizophrenia failed? (wiringthebrain.com)
  • It is true that many genetic linkage studies have been performed to look for mutations that are segregating with schizophrenia across multiple affected members in families. (wiringthebrain.com)
  • This depends very much on the details of how these studies were carried out, their underlying assumptions, their specific findings and the real genetic architecture of the disorder. (wiringthebrain.com)
  • In order for linkage studies to have power, you need to get data from many such transmissions and you therefore need big pedigrees - really huge pedigrees, actually, with information across multiple generations and preferably extending to lots of second or third degree relatives. (wiringthebrain.com)
  • Where linkage studies of other diseases have been successful, those are the kinds of pedigrees that have been analysed. (wiringthebrain.com)
  • Another thing that is absolutely imperative for linkage studies to work is that you know you are looking at the right phenotype - you must be certain of the affected status of each member of the pedigree. (wiringthebrain.com)
  • Genetic and cytological Studies on Oenothera. (caltech.edu)
  • Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. (colorado.edu)
  • But two other studies, one of pre-dominantly multiplex kindreds with a late age-of-onset 5 , the other of a cadre of kindreds with a unique Volga German ethnic origin 6 , found absence of linkage at least to D21S1/S11. (mssm.edu)
  • The development of computational resources to visualize and explore data from combined genome-wide expression and linkage studies is essential for the development of testable hypotheses. (ox.ac.uk)
  • This new Wellcome Trust Discovery Award will use new genomic data from population studies, building on the cross ancestry studies, and integrate with new multi-omic datasets using improved statistical genetic methodologies. (nottingham.ac.uk)
  • to provide robust, computationally feasible statistical methods for analysis of genetic linkage data, and 2. (uchicago.edu)
  • A framework for analyzing both linkage and association: an analysis of Genetic Analysis Workshop 16 simulated data. (bvsalud.org)
  • This is a particular problem for neuropsychiatric disorders, which we are now realising have highly overlapping genetic etiology . (wiringthebrain.com)
  • however genetic factors play an important role in its etiology. (molvis.org)
  • A consanguineous family of Somali origin with four affected children was ascertained and recruited for molecular genetic analysis. (molvis.org)
  • Molecular, genetic and cellular mechanisms underlying Asthma & Chronic Obstructive Pulmonary Disease. (nottingham.ac.uk)
  • D. To investigate robustness of linkage procedures to problems such as misspecified allele frequencies, genotyping errors, and interference. (uchicago.edu)
  • A challenge of living with a genetic disease, especially a very rare one, is that the mutation may affect different body parts. (rickilewis.com)
  • Aim: To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North Carolina-like macular dystrophy (NCMD). (elsevierpure.com)
  • Harik, G.R.: Learning gene linkage to efficiently solve problems of bounded difficulty using genetic algorithms. (springer.com)
  • Syswerda, G.: Uniform crossover in genetic algorithms. (springer.com)
  • Sastry, K.: Evaluation-relaxation schemes for genetic and evolutionary algorithms. (springer.com)
  • In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1 ) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract. (molvis.org)
  • We conducted linkage only, linkage and association , and association only tests under this framework. (bvsalud.org)
  • A genome-wide association study to identify genetic determinants of atopy in subjects from the United Kingdom Journal of Allergy and Clinical Immunology. (nottingham.ac.uk)
  • In the early stages of developing a linkage map, the data are used to assemble linkage groups, a set of genes which are known to be linked. (wikipedia.org)
  • This argument is often trotted out in discussions of the genetic architecture of schizophrenia, which centre on the question of whether it is caused by rare, single mutations in most cases or whether it is due to unfortunate combinations of thousands of common variants segregating in the population. (wiringthebrain.com)
  • So, finding really large pedigrees where schizophrenia is clearly segregating across multiple generations has not been easy - in fact, there are very few reported that would be large enough by themselves to allow a highly powered linkage study. (wiringthebrain.com)
  • Analysis of additional ET-affected families is needed to confirm linkage and identify the underlying gene. (qxmd.com)
  • We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E ( TBCE gene) in exon 3 at 1q42-43. (who.int)
  • 7 that can present with hypocalcaemia had brain imaging and skeletal survey, Parental consanguinity was reported and dysmorphic features, genetic testing and 3 patients had an ophthalmologi- in al 7 families. (who.int)
  • eQTL Explorer: integrated mining of combined genetic linkage and expression experiments. (ox.ac.uk)
  • It enables one to predict the configurations of untried combinations, and is to a certain extent in agreement with the genetic data of Renner(6) and Oehlkers. (caltech.edu)
  • It is capable of generating complex linkage rules which compare multiple properties of the entities and employ data transformations in order to normalise their values. (ucl.ac.uk)
  • Computes asymmetric LD measures (ALD) for multi-allelic genetic data. (r-project.org)
  • eQTL Explorer stores expression profiles, linkage data and information from external sources in a relational database and enables simultaneous visualization and intuitive interpretation of the combined data via a Java graphical interface. (ox.ac.uk)
  • Area deprivation, urbanicity, severe mental illness and social drift - A population-based linkage study using routinely collected primary and secondary care data by: Sze Chim Lee, et al. (swan.ac.uk)
  • Trends in socioeconomic inequalities in incidence of severe mental illness - A population-based linkage study using primary and secondary care routinely collected data between 2000 and 2017 by: Sze Chim Lee, et al. (swan.ac.uk)
  • Self‐harm, in‐person bullying and cyberbullying in secondary school‐aged children: A data linkage study in Wales by: Ann John, et al. (swan.ac.uk)
  • While it might not make sense for someone who is healthy and at population risk for cancer and other diseases, those that come for genetic counseling often have significant histories of early onset and often multisystem disease. (rickilewis.com)
  • Asthma and COPD are complex diseases involving both genetic and environmental factors resulting in disease expression. (nottingham.ac.uk)
  • There have been significant advances in the genetic epidemiology of lung function, but the causal genetic variants and causal genes, and the mechanisms by which they influence lung function, chronic obstructive pulmonary disease (COPD) and other respiratory diseases remain incompletely understood. (nottingham.ac.uk)
  • A common example where linkage is created is where an AI sire has produced calves in a number of different herds. (signetdata.com)
  • Quantitative trait genetic linkage analysis of body mass index in familial coronary artery disease. (ox.ac.uk)
  • I think many of us in the field (of genetic counseling) have been waiting for the day of whole genome sequencing at a reasonable price. (rickilewis.com)
  • The flow of genetic information in cells is which of the following? (proprofs.com)
  • The flow of genetic information in cells is that DNA is first transcribed into RNA through a process called transcription. (proprofs.com)
  • Genetic diversity of WPV1 isolates continued to decrease compared with 2015 and 2014. (cdc.gov)
  • From the position of the displaced clines, we infer that patches of locally suitable habitat trapped some genetic variants that became disassociated from the southward moving hybrid zone. (lu.se)
  • The first experiment to demonstrate linkage was carried out in 1905. (wikipedia.org)
  • In tests with linkage rules that have been created for our research projects our approach learnt rules which achieve a similar accuracy than the original human-created linkage rule. (ucl.ac.uk)
  • Any patient who tests negative or normal on the first run of testing then enters the world of follow-up genetic testing which is a confusing world of testing for genes of lower penetrance, variable onset, and uncertain significance. (rickilewis.com)
  • Methods: Details of the family were obtained fram the Moorfields Eye Hospital genetic clinic database and comprised eight affected, four unaffected members, and two spouses. (elsevierpure.com)
  • Clear guidelines for the interpretation of linkage results are needed to avoid a flood of false positive claims. (nih.gov)
  • Experimental results show that it outperforms a genetic programming approach for record deduplication recently presented by Carvalho et. (ucl.ac.uk)