Physical chromosome mapping. Medical search

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)

Any method used for determining the location of and relative distances between genes on a chromosome.

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)

Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.

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.

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 sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

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.

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.

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.

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.

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)

Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

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 orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.

A specific pair GROUP C CHROMSOMES of the human chromosome classification.

Actual loss of portion of a chromosome.

A specific pair of GROUP C CHROMSOMES of the human chromosome classification.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.

The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.

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 D CHROMOSOMES of the human chromosome classification.

The alignment of CHROMOSOMES at homologous sequences.

A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

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.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.

The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.

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.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

Mapping of the KARYOTYPE of a cell.

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 specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.

The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.

A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.

The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.

The ability to carry out daily tasks and perform physical activities in a highly functional state, often as a result of physical conditioning.

Aberrant chromosomes with no ends, i.e., circular.

An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.

The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.

The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.

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 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 dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.

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.

A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

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.

Structures within the CELL NUCLEUS of insect cells containing DNA.

A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.

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).

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."

Structures which are contained in or part of CHROMOSOMES.

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.

The physical activity of a human or an animal as a behavioral phenomenon.

The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.

The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).

A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

Therapeutic modalities frequently used in PHYSICAL THERAPY SPECIALTY by PHYSICAL THERAPISTS or physiotherapists to promote, maintain, or restore the physical and physiological well-being of an individual.

Physical activity which is usually regular and done with the intention of improving or maintaining PHYSICAL FITNESS or HEALTH. Contrast with PHYSICAL EXERTION which is concerned largely with the physiologic and metabolic response to energy expenditure.

Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.

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.

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 multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

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).

Analysis of PEPTIDES that are generated from the digestion or fragmentation of a protein or mixture of PROTEINS, by ELECTROPHORESIS; CHROMATOGRAPHY; or MASS SPECTROMETRY. The resulting peptide fingerprints are analyzed for a variety of purposes including the identification of the proteins in a sample, GENETIC POLYMORPHISMS, patterns of gene expression, and patterns diagnostic for diseases.

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.

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.

Methods used for studying the interactions of antibodies with specific regions of protein antigens. Important applications of epitope mapping are found within the area of immunochemistry.

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 technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.

The possession of a third chromosome of any one type in an otherwise diploid cell.

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.

The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.

Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.

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 terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.

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.

Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.

DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.

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.

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).

Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.

Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

Genotypic differences observed among individuals in a population.

Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.

A species of fruit fly much used in genetics because of the large size of its chromosomes.

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.

Systematic and thorough inspection of the patient for physical signs of disease or abnormality.

The auxiliary health profession which makes use of PHYSICAL THERAPY MODALITIES to prevent, correct, and alleviate movement dysfunction of anatomic or physiological origin.

Instructional programs in the care and development of the body, often in schools. The concept does not include prescribed exercises, which is EXERCISE THERAPY.

A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.

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.

Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.

An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.

The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.

Expenditure of energy during PHYSICAL ACTIVITY. Intensity of exertion may be measured by rate of OXYGEN CONSUMPTION; HEAT produced, or HEART RATE. Perceived exertion, a psychological measure of exertion, is included.

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)

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.

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.

An individual having different alleles at one or more loci regarding a specific character.

An aberration in which an extra chromosome or a chromosomal segment is made.

Recording of regional electrophysiological information by analysis of surface potentials to give a complete picture of the effects of the currents from the heart on the body surface. It has been applied to the diagnosis of old inferior myocardial infarction, localization of the bypass pathway in Wolff-Parkinson-White syndrome, recognition of ventricular hypertrophy, estimation of the size of a myocardial infarct, and the effects of different interventions designed to reduce infarct size. The limiting factor at present is the complexity of the recording and analysis, which requires 100 or more electrodes, sophisticated instrumentation, and dedicated personnel. (Braunwald, Heart Disease, 4th ed)

Genetic loci associated with a QUANTITATIVE TRAIT.

The genetic complement of a plant (PLANTS) as represented in its DNA.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

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.

'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.

A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.

Established cell cultures that have the potential to propagate indefinitely.

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

Optical mapping of Plasmodium falciparum chromosome 2. (1/1189)

Detailed restriction maps of microbial genomes are a valuable resource in genome sequencing studies but are toilsome to construct by contig construction of maps derived from cloned DNA. Analysis of genomic DNA enables large stretches of the genome to be mapped and circumvents library construction and associated cloning artifacts. We used pulsed-field gel electrophoresis purified Plasmodium falciparum chromosome 2 DNA as the starting material for optical mapping, a system for making ordered restriction maps from ensembles of individual DNA molecules. DNA molecules were bound to derivatized glass surfaces, cleaved with NheI or BamHI, and imaged by digital fluorescence microscopy. Large pieces of the chromosome containing ordered DNA restriction fragments were mapped. Maps were assembled from 50 molecules producing an average contig depth of 15 molecules and high-resolution restriction maps covering the entire chromosome. Chromosome 2 was found to be 976 kb by optical mapping with NheI, and 946 kb with BamHI, which compares closely to the published size of 947 kb from large-scale sequencing. The maps were used to further verify assemblies from the plasmid library used for sequencing. Maps generated in silico from the sequence data were compared to the optical mapping data, and good correspondence was found. Such high-resolution restriction maps may become an indispensable resource for large-scale genome sequencing projects. (+info)

Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (2/1189)

In this paper, we report the sequences of 100 cDNA clones newly determined from a set of size-fractionated human brain cDNA libraries and predict the coding sequences of the corresponding genes, named KIAA0819 to KIAA0918. These cDNA clones were selected on the basis of their coding potentials of large proteins (50 kDa and more) by using in vitro transcription/translation assays. The sequence data showed that the average sizes of the inserts and corresponding open reading frames are 4.4 kb and 2.5 kb (831 amino acid residues), respectively. Homology and motif/domain searches against the public databases indicated that the predicted coding sequences of 83 genes were similar to those of known genes, 59% of which (49 genes) were categorized as coding for proteins functionally related to cell signaling/communication, cell structure/motility and nucleic acid management. The chromosomal locations and the expression profiles of all the genes were also examined. For 54 clones including brain-specific ones, the mRNA levels were further examined among 8 brain regions (amygdala, corpus callosum, cerebellum, caudate nucleus, hippocampus, substantia nigra, subthalamic nucleus, and thalamus), spinal cord, and fetal brain. (+info)

Structural analysis of Arabidopsis thaliana chromosome 5. VIII. Sequence features of the regions of 1,081,958 bp covered by seventeen physically assigned P1 and TAC clones. (3/1189)

A total of 17 Pl and TAC clones each representing an assigned region of chromosome 5 were isolated from P1 and TAC genomic libraries of Arabidopsis thaliana Columbia, and their nucleotide sequences were determined. The length of the clones sequenced in this study summed up to 1,081,958 bp. As we have previously reported the sequence of 9,072,622 bp by analysis of 125 P1 and TAC clones, the total length of the sequences of chromosome 5 determined so far is now 10,154,580 bp. The sequences were subjected to similarity search against protein and EST databases and analysis with computer programs for gene modeling. As a consequence, a total of 253 potential protein-coding genes with known or predicted functions were identified. The positions of exons which do not show apparent similarity to known genes were also assigned using computer programs for exon prediction. The average density of the genes identified in this study was 1 gene per 4277 bp. Introns were observed in 74% of the potential protein genes, and the average number per gene and the average length of the introns were 4.3 and 168 bp, respectively. The sequence data and gene information are available on the World Wide Web database KAOS (Kazusa Arabidopsis data Opening Site) at http://www.kazusa.or.jp/arabi/. (+info)

Molecular characterization of the genes pcaG and pcaH, encoding protocatechuate 3,4-dioxygenase, which are essential for vanillin catabolism in Pseudomonas sp. strain HR199. (4/1189)

Pseudomonas sp. strain HR199 is able to utilize eugenol (4-allyl-2-methoxyphenol), vanillin (4-hydroxy-3-methoxybenzaldehyde), or protocatechuate as the sole carbon source for growth. Mutants of this strain which were impaired in the catabolism of vanillin but retained the ability to utilize eugenol or protocatechuate were obtained after nitrosoguanidine mutagenesis. One mutant (SK6169) was used as recipient of a Pseudomonas sp. strain HR199 genomic library in cosmid pVK100, and phenotypic complementation was achieved with a 5.8-kbp EcoRI fragment (E58). The amino acid sequences deduced from two corresponding open reading frames (ORF) identified on E58 revealed high degrees of homology to pcaG and pcaH, encoding the two subunits of protocatechuate 3,4-dioxygenase. Three additional ORF most probably encoded a 4-hydroxybenzoate 3-hydroxylase (PobA) and two putative regulatory proteins, which exhibited homology to PcaQ of Agrobacterium tumefaciens and PobR of Pseudomonas aeruginosa, respectively. Since mutant SK6169 was also complemented by a subfragment of E58 that harbored only pcaH, this mutant was most probably lacking a functional beta subunit of the protocatechuate 3, 4-dioxygenase. Since this mutant was still able to grow on protocatechuate and lacked protocatechuate 4,5-dioxygenase and protocatechuate 2,3-dioxygenase, the degradation had to be catalyzed by different enzymes. Two other mutants (SK6184 and SK6190), which were also impaired in the catabolism of vanillin, were not complemented by fragment E58. Since these mutants accumulated 3-carboxy muconolactone during cultivation on eugenol, they most probably exhibited a defect in a step of the catabolic pathway following the ortho cleavage. Moreover, in these mutants cyclization of 3-carboxymuconic acid seems to occur by a syn absolute stereochemical course, which is normally only observed for cis, cis-muconate lactonization in pseudomonads. In conclusion, vanillin is degraded through the ortho-cleavage pathway in Pseudomonas sp. strain HR199 whereas protocatechuate could also be metabolized via a different pathway in the mutants. (+info)

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (5/1189)

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval. (+info)

Cloning of mnuA, a membrane nuclease gene of Mycoplasma pulmonis, and analysis of its expression in Escherichia coli. (6/1189)

Membrane nucleases of mycoplasmas are believed to play important roles in growth and pathogenesis, although no clear evidence for their importance has yet been obtained. As a first step in defining the function of this unusual membrane activity, studies were undertaken to clone and analyze one of the membrane nuclease genes from Mycoplasma pulmonis. A novel screening strategy was used to identify a recombinant lambda phage expressing nuclease activity, and its cloned fragment was analyzed. Transposon mutagenesis was used to identify an open reading frame of 1,410 bp, which coded for nuclease activity in Escherichia coli. This gene coded for a 470-amino-acid polypeptide of 53,739 Da and was designated mnuA (for "membrane nuclease"). The MnuA protein contained a prolipoprotein signal peptidase II recognition sequence along with an extensive hydrophobic region near the amino terminus, suggesting that the protein may be lipid modified or that it is anchored in the membrane by this membrane-spanning region. Antisera raised against two MnuA peptide sequences identified an M. pulmonis membrane protein of approximately 42 kDa by immunoblotting, which corresponded to a trypsin-sensitive nucleolytic band of the same size. Maxicell experiments with E. coli confirmed that mnuA coded for a nuclease of unknown specificity. Hybridization studies showed that mnuA sequences are found in few Mycoplasma species, suggesting that mycoplasma membrane nucleases display significant sequence variation within the genus Mycoplasma. (+info)

Characterization of the recD gene of Neisseria gonorrhoeae MS11 and the effect of recD inactivation on pilin variation and DNA transformation. (7/1189)

Pilin antigenic variation in Neisseria gonorrhoeae may result following intrachromosomal recombination between homologous pil genes. Despite extensive study, recA is the only previously characterized gene known to be involved in this process. In this study, the gonococcal recD gene, encoding one subunit of the putative RecBCD holoenzyme, was characterized and its role in pilin variation assessed. The complete recD gene of N. gonorrhoeae MS11 was cloned and its nucleotide sequence determined. The gonococcal recD gene complemented a defined Escherichia coli recD mutant, based on plaque formation of bacteriophage lambda and the restoration of ATP-dependent nuclease activity. Inactivation of the gonococcal recD gene had no measurable effect on cell viability or survival following UV exposure, but did decrease the frequency of DNA transformation approximately threefold. The frequency at which non-parental pilin phenotypes were spawned was 12-fold greater in MS11 recD mutants compared with the parental MS11 rec+ strain. Similar results were obtained using recD mutants that were not competent for DNA transformation. Complementation of the MS11 recD mutant with a wild-type recD gene copy restored the frequency of pilin phenotypic variation to approximately wild-type levels. The nucleotide changes at pilE in the recD mutants were confined to the variable regions of the gene and were similar to changes previously attributed to gene conversion. (+info)

Cytochrome c550 is an essential component of the quinoprotein ethanol oxidation system in Pseudomonas aeruginosa: cloning and sequencing of the genes encoding cytochrome c550 and an adjacent acetaldehyde dehydrogenase. (8/1189)

Pseudomonas aeruginosa ATCC 17933 grown aerobically on ethanol produces a soluble cytochrome c550 together with a quinoprotein ethanol dehydrogenase. A 3.2 kb genomic DNA fragment containing the gene encoding cytochrome c550 was cloned and sequenced. Two other complete and two truncated ORFs were also identified. A truncated ORF encoding the quinoprotein ethanol dehydrogenase (exaA) was found upstream of the cytochrome c550 gene (exaB) and in reverse orientation. An ORF encoding a NAD(+)-dependent acetaldehyde dehydrogenase (exaC) was located downstream of the cytochrome c550 gene and in the same orientation. Another ORF showed similarity to the pqqA gene and a truncated ORF similarity to the pqqB gene, both involved in the biosynthesis of the prosthetic group PQQ. The organization of these genes was found to be different from the well-studied methanol oxidation system in methylotrophic bacteria. The deduced amino acid sequence of cytochrome c550 from P. aeruginosa showed some similarity to cytochrome c6 of the alga Chlamydomonas reinhardtii and the haem domain of quinohaemoprotein alcohol dehydrogenases of acetic acid bacteria, but no similarity to the soluble cytochrome cL of the quinoprotein methanol oxidation system of methylotrophs could be detected. A mutant of P. aeruginosa with an interrupted cytochrome c550 gene was unable to grow on ethanol, which proves that cytochrome c550 is an essential component of the ethanol oxidation system in this organism. (+info)

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.

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.

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.

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.

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!

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 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.

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.

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.

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.

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.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

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.

Complementary DNA (cDNA) is a type of DNA that is synthesized from a single-stranded RNA molecule through the process of reverse transcription. In this process, the enzyme reverse transcriptase uses an RNA molecule as a template to synthesize a complementary DNA strand. The resulting cDNA is therefore complementary to the original RNA molecule and is a copy of its coding sequence, but it does not contain non-coding regions such as introns that are present in genomic DNA.

Complementary DNA is often used in molecular biology research to study gene expression, protein function, and other genetic phenomena. For example, cDNA can be used to create cDNA libraries, which are collections of cloned cDNA fragments that represent the expressed genes in a particular cell type or tissue. These libraries can then be screened for specific genes or gene products of interest. Additionally, cDNA can be used to produce recombinant proteins in heterologous expression systems, allowing researchers to study the structure and function of proteins that may be difficult to express or purify from their native sources.

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.

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).

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.

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.

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 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.

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 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.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

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.

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.

Chromosomes in fungi are thread-like structures that contain genetic material, composed of DNA and proteins, present in the nucleus of a cell. Unlike humans and other eukaryotes that have a diploid number of chromosomes in their somatic cells, fungal chromosome numbers can vary widely between and within species.

Fungal chromosomes are typically smaller and fewer in number compared to those found in plants and animals. The chromosomal organization in fungi is also different from other eukaryotes. In many fungi, the chromosomes are condensed throughout the cell cycle, whereas in other eukaryotes, chromosomes are only condensed during cell division.

Fungi can have linear or circular chromosomes, depending on the species. For example, the model organism Saccharomyces cerevisiae (budding yeast) has a set of 16 small circular chromosomes, while other fungi like Neurospora crassa (red bread mold) and Aspergillus nidulans (a filamentous fungus) have linear chromosomes.

Fungal chromosomes play an essential role in the growth, development, reproduction, and survival of fungi. They carry genetic information that determines various traits such as morphology, metabolism, pathogenicity, and resistance to environmental stresses. Advances in genomic technologies have facilitated the study of fungal chromosomes, leading to a better understanding of their structure, function, and evolution.

Chromosomes are thread-like structures that contain genetic material, made up of DNA and proteins, in the nucleus of cells. In humans, there are typically 46 chromosomes arranged in 23 pairs, with one member of each pair coming from each parent. The six pairs of chromosomes numbered 6 through 12, along with the X chromosome, are part of these 23 pairs and are referred to as autosomal chromosomes and a sex chromosome.

Human chromosome 6 is one of the autosomal chromosomes and contains an estimated 170 million base pairs and around 1,500 genes. It plays a role in several important functions, including immune response, cell signaling, and nervous system function.

Human chromosome 7 is another autosomal chromosome that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 is best known for containing the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein, whose mutations can lead to cystic fibrosis.

Human chromosome 8 is an autosomal chromosome that contains around 146 million base pairs and approximately 900 genes. Chromosome 8 has been associated with several genetic disorders, including Smith-Magenis syndrome and 8p deletion syndrome.

Human chromosome 9 is an autosomal chromosome that contains around 139 million base pairs and approximately 950 genes. Chromosome 9 has been linked to several genetic disorders, including Hereditary Spherocytosis and CHARGE syndrome.

Human chromosome 10 is an autosomal chromosome that contains around 135 million base pairs and approximately 800 genes. Chromosome 10 has been associated with several genetic disorders, including Dyschondrosteosis and Melanoma.

Human chromosome 11 is an autosomal chromosome that contains around 135 million base pairs and approximately 800 genes. Chromosome 11 has been linked to several genetic disorders, including Wilms tumor and Beckwith-Wiedemann syndrome.

Human chromosome 12 is an autosomal chromosome that contains around 133 million base pairs and approximately 750 genes. Chromosome 12 has been associated with several genetic disorders, including Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).

The X chromosome is one of the two sex chromosomes in humans. Females have two X chromosomes, while males have one X and one Y chromosome. The X chromosome contains around 155 million base pairs and approximately 1,000 genes. It has been linked to several genetic disorders, including Duchenne muscular dystrophy and Fragile X syndrome.

The Y chromosome is the other sex chromosome in humans. Males have one X and one Y chromosome, while females have two X chromosomes. The Y chromosome contains around 59 million base pairs and approximately 70 genes. It is primarily responsible for male sexual development and fertility.

In summary, the human genome consists of 23 pairs of chromosomes, including 22 autosomal pairs and one sex chromosome pair (XX in females and XY in males). The total length of the human genome is approximately 3 billion base pairs, and it contains around 20,000-25,000 protein-coding genes. Chromosomes are made up of DNA and proteins called histones, which help to package the DNA into a compact structure. The chromosomes contain genetic information that is passed down from parents to their offspring through reproduction.

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).

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.

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.

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 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.

Chromosome pairing, also known as chromosome synapsis, is a process that occurs during meiosis, which is the type of cell division that results in the formation of sex cells or gametes (sperm and eggs).

In humans, each cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. Of these, 22 pairs are called autosomal chromosomes, and they are similar in size and shape between the two copies in a pair. The last pair is called the sex chromosomes (X and Y), which determine the individual's biological sex.

During meiosis, homologous chromosomes (one from each parent) come together and pair up along their lengths in a process called synapsis. This pairing allows for the precise alignment of corresponding genes and genetic regions between the two homologous chromosomes. Once paired, the chromosomes exchange genetic material through a process called crossing over, which increases genetic diversity in the resulting gametes.

After crossing over, the homologous chromosomes separate during meiosis I, followed by the separation of sister chromatids (the two copies of each chromosome) during meiosis II. The end result is four haploid cells, each containing 23 chromosomes, which then develop into sperm or eggs.

Chromosome pairing is a crucial step in the process of sexual reproduction, ensuring that genetic information is accurately passed from one generation to the next while also promoting genetic diversity through recombination and independent assortment of chromosomes.

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.

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.

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.

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.

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.

Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.

The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.

In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.

Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

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).

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.

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.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

Chromosome painting is a molecular cytogenetic technique used to identify and visualize the specific chromosomes or chromosomal regions that are present in an abnormal location or number in a cell. This technique uses fluorescent probes that bind specifically to different chromosomes or chromosomal regions, allowing for their identification under a fluorescence microscope.

The process of chromosome painting involves labeling different chromosomes or chromosomal regions with fluorescent dyes of distinct colors. The labeled probes are then hybridized to the metaphase chromosomes of a cell, and any excess probe is washed away. The resulting fluorescent pattern allows for the identification of specific chromosomes or chromosomal regions that have been gained, lost, or rearranged in the genome.

Chromosome painting has numerous applications in medical genetics, including prenatal diagnosis, cancer cytogenetics, and constitutional genetic disorders. It can help to identify chromosomal abnormalities such as translocations, deletions, and duplications that may contribute to disease or cancer development.

Human chromosomes are the thread-like structures located in the nucleus of human cells, which carry genetic information in the form of DNA. Humans have a total of 46 chromosomes arranged in 23 pairs. The first 22 pairs are called autosomes, and the last pair are the sex chromosomes, X and Y.

Chromosomes 1-3 are the largest human chromosomes, and they contain a significant portion of the human genome. Here is a brief overview of each:

1. Chromosome 1: This is the largest human chromosome, spanning about 8% of the human genome. It contains approximately 2,800 genes that are responsible for various functions such as cell growth and division, nerve function, and response to stimuli.
2. Chromosome 2: The second largest human chromosome, spanning about 7% of the human genome. It contains approximately 2,300 genes that are involved in various functions such as metabolism, development, and immune response.
3. Chromosome 3: This is the third largest human chromosome, spanning about 6% of the human genome. It contains approximately 1,900 genes that are responsible for various functions such as DNA repair, cell signaling, and response to stress.

It's worth noting that while these chromosomes contain a large number of genes, they also have significant amounts of non-coding DNA, which means that not all of the genetic material on these chromosomes is responsible for encoding proteins or other functional elements.

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.

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.

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.

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 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.

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 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.

Chromosomes are thread-like structures located in the nucleus of cells that contain most of the DNA present in cells. They come in pairs, with one set inherited from each parent. In humans, there are typically 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosomes 16-18 refer to the specific chromosomes that make up the 16th and 17th pairs in human cells. Chromosome 16 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the middle of the chromosome. It contains around 115 million base pairs of DNA and encodes approximately 1,100 genes.

Chromosome 17 is a metacentric chromosome, meaning it has a centromere located in the middle, dividing the chromosome into two arms of equal length. It contains around 81 million base pairs of DNA and encodes approximately 1,300 genes.

Chromosome 18 is a small acrocentric chromosome with a short arm (p arm) and a long arm (q arm), with the centromere located near the end of the short arm. It contains around 76 million base pairs of DNA and encodes approximately 1,200 genes.

Abnormalities in these chromosomes can lead to various genetic disorders, such as Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and some forms of Down syndrome (translocation between chromosomes 14 and 21).

Human chromosomes 13-15 are part of a set of 23 pairs of chromosomes found in the cells of the human body. Chromosomes are thread-like structures that contain genetic material, or DNA, that is inherited from each parent. They are responsible for the development and function of all the body's organs and systems.

Chromosome 13 is a medium-sized chromosome and contains an estimated 114 million base pairs of DNA. It is associated with several genetic disorders, including cri du chat syndrome, which is caused by a deletion on the short arm of the chromosome. Chromosome 13 also contains several important genes, such as those involved in the production of enzymes and proteins that help regulate growth and development.

Chromosome 14 is a medium-sized chromosome and contains an estimated 107 million base pairs of DNA. It is known to contain many genes that are important for the normal functioning of the brain and nervous system, as well as genes involved in the production of immune system proteins. Chromosome 14 is also associated with a number of genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion on the short arm of the chromosome.

Chromosome 15 is a medium-sized chromosome and contains an estimated 102 million base pairs of DNA. It is associated with several genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by abnormalities in the expression of genes on the chromosome. Chromosome 15 also contains important genes involved in the regulation of growth and development, as well as genes that play a role in the production of neurotransmitters, the chemical messengers of the brain.

It is worth noting that while chromosomes 13-15 are important for normal human development and function, abnormalities in these chromosomes can lead to a variety of genetic disorders and developmental issues.

Chromosome breakage is a medical term that refers to the breaking or fragmentation of chromosomes, which are thread-like structures located in the nucleus of cells that carry genetic information. Normally, chromosomes are tightly coiled and consist of two strands called chromatids, joined together at a central point called the centromere.

Chromosome breakage can occur spontaneously or be caused by environmental factors such as radiation or chemicals, or inherited genetic disorders. When a chromosome breaks, it can result in various genetic abnormalities, depending on the location and severity of the break.

For instance, if the break occurs in a region containing important genes, it can lead to the loss or alteration of those genes, causing genetic diseases or birth defects. In some cases, the broken ends of the chromosome may rejoin incorrectly, leading to chromosomal rearrangements such as translocations, deletions, or inversions. These rearrangements can also result in genetic disorders or cancer.

Chromosome breakage is commonly observed in individuals with certain inherited genetic conditions, such as Bloom syndrome, Fanconi anemia, and ataxia-telangiectasia, which are characterized by an increased susceptibility to chromosome breakage due to defects in DNA repair mechanisms.

Human chromosomes are thread-like structures that contain genetic material, composed of DNA and proteins, present in the nucleus of human cells. Each chromosome is a single, long DNA molecule that carries hundreds to thousands of genes.

Chromosomes 21, 22, and Y are three of the 23 pairs of human chromosomes. Here's what you need to know about each:

* Chromosome 21 is the smallest human autosomal chromosome, with a total length of about 47 million base pairs. It contains an estimated 200-300 genes and is associated with several genetic disorders, most notably Down syndrome, which occurs when there is an extra copy of this chromosome (trisomy 21).
* Chromosome 22 is the second smallest human autosomal chromosome, with a total length of about 50 million base pairs. It contains an estimated 500-600 genes and is associated with several genetic disorders, including DiGeorge syndrome and cat-eye syndrome.
* The Y chromosome is one of the two sex chromosomes (the other being the X chromosome) and is found only in males. It is much smaller than the X chromosome, with a total length of about 59 million base pairs and an estimated 70-200 genes. The Y chromosome determines maleness by carrying the gene for the testis-determining factor (TDF), which triggers male development in the embryo.

It's worth noting that while we have a standard set of 23 pairs of chromosomes, there can be variations and abnormalities in the number or structure of these chromosomes that can lead to genetic disorders.

Physical fitness is a state of being able to perform various physical activities that require endurance, strength, flexibility, balance, and coordination. According to the American Heart Association (AHA), physical fitness is defined as "a set of attributes that people have or achieve that relates to the ability to perform physical activity."

The AHA identifies five components of physical fitness:

1. Cardiorespiratory endurance: The ability of the heart, lungs, and blood vessels to supply oxygen to muscles during sustained physical activity.
2. Muscular strength: The amount of force a muscle can exert in a single effort.
3. Muscular endurance: The ability of a muscle or group of muscles to sustain repeated contractions or to continue to apply force against an external resistance over time.
4. Flexibility: The range of motion possible at a joint.
5. Body composition: The proportion of fat-free mass (muscle, bone, and organs) to fat mass in the body.

Being physically fit can help reduce the risk of chronic diseases such as heart disease, diabetes, and some types of cancer. It can also improve mental health, increase energy levels, and enhance overall quality of life.

A ring chromosome is a structurally abnormal chromosome that has formed a circle or ring shape. This occurs when both ends of the chromosome break off and the resulting fragments join together to form a circular structure. Ring chromosomes can vary in size, and the loss of genetic material during the formation of the ring can lead to genetic disorders and developmental delays. The effects of a ring chromosome depend on the location of the breakpoints and the amount of genetic material lost. Some individuals with ring chromosomes may have mild symptoms, while others may have severe disabilities or health problems.

A chromosome inversion is a genetic rearrangement where a segment of a chromosome has been reversed end to end, so that its order of genes is opposite to the original. This means that the gene sequence on the segment of the chromosome has been inverted.

In an inversion, the chromosome breaks in two places, and the segment between the breaks rotates 180 degrees before reattaching. This results in a portion of the chromosome being inverted, or turned upside down, relative to the rest of the chromosome.

Chromosome inversions can be either paracentric or pericentric. Paracentric inversions involve a segment that does not include the centromere (the central constriction point of the chromosome), while pericentric inversions involve a segment that includes the centromere.

Inversions can have various effects on an individual's phenotype, depending on whether the inversion involves genes and if so, how those genes are affected by the inversion. In some cases, inversions may have no noticeable effect, while in others they may cause genetic disorders or predispose an individual to certain health conditions.

Chromosome positioning, also known as chromosome organization or chromosome architecture, refers to the specific location and spatial arrangement of chromosomes within the nucleus of a eukaryotic cell. This complex process is critical for proper regulation of gene expression, DNA replication, and chromosomal stability during the cell cycle.

Chromosomes are not randomly positioned in the nucleus; instead, they occupy distinct territories that are non-randomly organized with respect to each other. Chromosome positioning is influenced by several factors, including the presence of nuclear bodies, such as the nucleolus and nuclear speckles, as well as by the interactions between chromatin regions and the nuclear lamina.

The spatial organization of chromosomes can have significant consequences for gene regulation, as genes that are located in close proximity to each other may be more likely to interact and influence each other's expression. Chromosome positioning has also been implicated in various diseases, including cancer, where abnormalities in chromosome organization have been associated with changes in gene expression and genomic instability.

Overall, the medical definition of 'chromosome positioning' refers to the complex and dynamic process by which chromosomes are organized within the nucleus of a cell, and how this organization influences various cellular processes and functions.

Chromosomes are thread-like structures located in the nucleus of cells that carry genetic information in the form of genes. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes in every cell of the body, except for the sperm and egg cells which contain only 23 chromosomes.

Human chromosomes are numbered from 1 to 22, based on their size, with chromosome 1 being the largest and chromosome 22 being the smallest. The last two pairs of human chromosomes are known as the sex chromosomes because they determine a person's biological sex. These are labeled X and Y, with females having two X chromosomes (44+XX) and males having one X and one Y chromosome (44+XY).

Therefore, "Chromosomes, Human, 4-5" refers to the fourth and fifth pairs of human chromosomes. Chromosome 4 is an acrocentric chromosome, meaning its centromere is located near one end, resulting in a short arm (p) and a long arm (q). It contains about 190 million base pairs and encodes approximately 700 genes.

Chromosome 5 is a submetacentric chromosome, with the centromere located closer to the middle, creating two arms of roughly equal length: the short arm (p) and the long arm (q). It contains about 182 million base pairs and encodes approximately 900 genes.

Both chromosomes 4 and 5 are involved in various genetic disorders when abnormalities occur, such as deletions, duplications, or translocations. Some of the well-known genetic conditions associated with these chromosomes include:

* Chromosome 4: Wolf-Hirschhorn syndrome (deletion), Charcot-Marie-Tooth disease type 1A (duplication)
* Chromosome 5: Cri du Chat syndrome (deletion), Duchenne muscular dystrophy (deletion or mutation in a gene located on chromosome 5)

"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.

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.

X chromosome inactivation (XCI) is a process that occurs in females of mammalian species, including humans, to compensate for the difference in gene dosage between the sexes. Females have two X chromosomes, while males have one X and one Y chromosome. To prevent females from having twice as many X-linked genes expressed as males, one of the two X chromosomes in each female cell is randomly inactivated during early embryonic development.

XCI results in the formation of a condensed and transcriptionally inactive structure called a Barr body, which can be observed in the nucleus of female cells. This process ensures that females express similar levels of X-linked genes as males, maintaining a balanced gene dosage. The choice of which X chromosome is inactivated (maternal or paternal) is random and occurs independently in each cell, leading to a mosaic expression pattern of X-linked genes in different cells and tissues of the female body.

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).

Translocation, genetic, refers to a type of chromosomal abnormality in which a segment of a chromosome is transferred from one chromosome to another, resulting in an altered genome. This can occur between two non-homologous chromosomes (non-reciprocal translocation) or between two homologous chromosomes (reciprocal translocation). Genetic translocations can lead to various clinical consequences, depending on the genes involved and the location of the translocation. Some translocations may result in no apparent effects, while others can cause developmental abnormalities, cancer, or other genetic disorders. In some cases, translocations can also increase the risk of having offspring with genetic conditions.

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.

Chromosomes in insects are thread-like structures that contain genetic material, made up of DNA and proteins, found in the nucleus of a cell. In insects, like other eukaryotes, chromosomes come in pairs, with one set inherited from each parent. They are crucial for the inheritance, storage, and transmission of genetic information from one generation to the next.

Insects typically have a diploid number of chromosomes (2n), which varies among species. The chromosomes are present in the cell's nucleus during interphase as loosely coiled structures called chromatin. During cell division, they condense and become visible under the microscope as distinct, X-shaped structures called metaphase chromosomes.

The insect chromosome set includes autosomal chromosomes, which are identical in appearance and function between males and females, and sex chromosomes, which differ between males and females. In many insects, the males have an XY sex chromosome constitution, while the females have an XX sex chromosome constitution. The sex chromosomes carry genes that determine the sex of the individual.

Insect chromosomes play a vital role in various biological processes, including development, reproduction, and evolution. They are also essential for genetic research and breeding programs in agriculture and medicine.

Meiosis is a type of cell division that results in the formation of four daughter cells, each with half the number of chromosomes as the parent cell. It is a key process in sexual reproduction, where it generates gametes or sex cells (sperm and eggs).

The process of meiosis involves one round of DNA replication followed by two successive nuclear divisions, meiosis I and meiosis II. In meiosis I, homologous chromosomes pair, form chiasma and exchange genetic material through crossing over, then separate from each other. In meiosis II, sister chromatids separate, leading to the formation of four haploid cells. This process ensures genetic diversity in offspring by shuffling and recombining genetic information during the formation of gametes.

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.

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.

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.

Chromosomes are thread-like structures located in the nucleus of cells that carry genetic information in the form of genes. A chromosome is made up of one long DNA molecule coiled tightly with proteins called histones to form a compact structure. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes in every cell of the body, except for the sperm and egg cells which contain only 23 chromosomes each.

Chromosome structures can be described by their number, shape, size, and banding pattern. The number of chromosomes in a cell is usually constant for a species, but can vary between species. Chromosomes come in different shapes, including rod-shaped, V-shaped, or J-shaped, depending on the position of the centromere, which is the constricted region where the chromatids (the two copies of chromosome) are joined together.

The size of chromosomes also varies, with some being much larger than others. Chromosomes can be classified into several groups based on their size and banding pattern, which is a series of light and dark bands that appear when chromosomes are stained with certain dyes. The banding pattern is unique to each chromosome and can be used to identify specific regions or genes on the chromosome.

Chromosome structures can also be affected by genetic changes, such as mutations, deletions, duplications, inversions, and translocations, which can lead to genetic disorders and diseases. Understanding the structure and function of chromosomes is essential for diagnosing and treating genetic conditions, as well as for advancing our knowledge of genetics and human health.

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.

"Motor activity" is a general term used in the field of medicine and neuroscience to refer to any kind of physical movement or action that is generated by the body's motor system. The motor system includes the brain, spinal cord, nerves, and muscles that work together to produce movements such as walking, talking, reaching for an object, or even subtle actions like moving your eyes.

Motor activity can be voluntary, meaning it is initiated intentionally by the individual, or involuntary, meaning it is triggered automatically by the nervous system without conscious control. Examples of voluntary motor activity include deliberately lifting your arm or kicking a ball, while examples of involuntary motor activity include heartbeat, digestion, and reflex actions like jerking your hand away from a hot stove.

Abnormalities in motor activity can be a sign of neurological or muscular disorders, such as Parkinson's disease, cerebral palsy, or multiple sclerosis. Assessment of motor activity is often used in the diagnosis and treatment of these conditions.

Human chromosomes are thread-like structures that contain genetic information in the form of DNA and proteins. Each human cell typically contains 46 chromosomes arranged in 23 pairs, except for the sperm and egg cells which contain only 23 chromosomes (one half of the full set).

Chromosome 19 is one of the autosomal chromosomes, meaning it is not a sex chromosome. It is the fifth smallest human chromosome, spanning about 58 million base pairs and representing approximately 1.9% of the total DNA in cells. Chromosome 19 contains more than 1,200 genes that provide instructions for making proteins and RNA molecules involved in various cellular processes.

Chromosome 20 is also an autosomal chromosome, slightly smaller than chromosome 19. It spans about 54 million base pairs and contains around 800 genes that code for proteins and RNA molecules. Chromosome 20 is known to contain several important genes involved in cancer development, such as the tumor suppressor gene TP53.

Together, chromosomes 19 and 20 carry crucial genetic information necessary for normal human growth, development, and health. Abnormalities in these chromosomes can lead to various genetic disorders and diseases.

Metaphase is a phase in the cell division process (mitosis or meiosis) where the chromosomes align in the middle of the cell, also known as the metaphase plate or equatorial plane. During this stage, each chromosome consists of two sister chromatids attached to each other by a protein complex called the centromere. The spindle fibers from opposite poles of the cell attach to the centromeres of each chromosome, and through a process called congression, they align the chromosomes in the middle of the cell. This alignment allows for accurate segregation of genetic material during the subsequent anaphase stage.

Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.

In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.

Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.

Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.

Mitosis is a type of cell division in which the genetic material of a single cell, called the mother cell, is equally distributed into two identical daughter cells. It's a fundamental process that occurs in multicellular organisms for growth, maintenance, and repair, as well as in unicellular organisms for reproduction.

The process of mitosis can be broken down into several stages: prophase, prometaphase, metaphase, anaphase, and telophase. During prophase, the chromosomes condense and become visible, and the nuclear envelope breaks down. In prometaphase, the nuclear membrane is completely disassembled, and the mitotic spindle fibers attach to the chromosomes at their centromeres.

During metaphase, the chromosomes align at the metaphase plate, an imaginary line equidistant from the two spindle poles. In anaphase, sister chromatids are pulled apart by the spindle fibers and move toward opposite poles of the cell. Finally, in telophase, new nuclear envelopes form around each set of chromosomes, and the chromosomes decondense and become less visible.

Mitosis is followed by cytokinesis, a process that divides the cytoplasm of the mother cell into two separate daughter cells. The result of mitosis and cytokinesis is two genetically identical cells, each with the same number and kind of chromosomes as the original parent cell.

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.

Physical therapy modalities refer to the various forms of treatment that physical therapists use to help reduce pain, promote healing, and restore function to the body. These modalities can include:

1. Heat therapy: This includes the use of hot packs, paraffin baths, and infrared heat to increase blood flow, relax muscles, and relieve pain.
2. Cold therapy: Also known as cryotherapy, this involves the use of ice packs, cold compresses, or cooling gels to reduce inflammation, numb the area, and relieve pain.
3. Electrical stimulation: This uses electrical currents to stimulate nerves and muscles, which can help to reduce pain, promote healing, and improve muscle strength and function.
4. Ultrasound: This uses high-frequency sound waves to penetrate deep into tissues, increasing blood flow, reducing inflammation, and promoting healing.
5. Manual therapy: This includes techniques such as massage, joint mobilization, and stretching, which are used to improve range of motion, reduce pain, and promote relaxation.
6. Traction: This is a technique that uses gentle pulling on the spine or other joints to help relieve pressure and improve alignment.
7. Light therapy: Also known as phototherapy, this involves the use of low-level lasers or light-emitting diodes (LEDs) to promote healing and reduce pain and inflammation.
8. Therapeutic exercise: This includes a range of exercises that are designed to improve strength, flexibility, balance, and coordination, and help patients recover from injury or illness.

Physical therapy modalities are often used in combination with other treatments, such as manual therapy and therapeutic exercise, to provide a comprehensive approach to rehabilitation and pain management.

Exercise is defined in the medical context as a physical activity that is planned, structured, and repetitive, with the primary aim of improving or maintaining one or more components of physical fitness. Components of physical fitness include cardiorespiratory endurance, muscular strength, muscular endurance, flexibility, and body composition. Exercise can be classified based on its intensity (light, moderate, or vigorous), duration (length of time), and frequency (number of times per week). Common types of exercise include aerobic exercises, such as walking, jogging, cycling, and swimming; resistance exercises, such as weightlifting; flexibility exercises, such as stretching; and balance exercises. Exercise has numerous health benefits, including reducing the risk of chronic diseases, improving mental health, and enhancing overall quality of life.

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.

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.

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.

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.

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.

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.

Peptide mapping is a technique used in proteomics and analytical chemistry to analyze and identify the sequence and structure of peptides or proteins. This method involves breaking down a protein into smaller peptide fragments using enzymatic or chemical digestion, followed by separation and identification of these fragments through various analytical techniques such as liquid chromatography (LC) and mass spectrometry (MS).

The resulting peptide map serves as a "fingerprint" of the protein, providing information about its sequence, modifications, and structure. Peptide mapping can be used for a variety of applications, including protein identification, characterization of post-translational modifications, and monitoring of protein degradation or cleavage.

In summary, peptide mapping is a powerful tool in proteomics that enables the analysis and identification of proteins and their modifications at the peptide level.

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.

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.

Epitope mapping is a technique used in immunology to identify the specific portion or regions (called epitopes) on an antigen that are recognized and bind to antibodies or T-cell receptors. This process helps to understand the molecular basis of immune responses against various pathogens, allergens, or transplanted tissues.

Epitope mapping can be performed using different methods such as:

1. Peptide scanning: In this method, a series of overlapping peptides spanning the entire length of the antigen are synthesized and tested for their ability to bind to antibodies or T-cell receptors. The peptide that shows binding is considered to contain the epitope.
2. Site-directed mutagenesis: In this approach, specific amino acids within the antigen are altered, and the modified antigens are tested for their ability to bind to antibodies or T-cell receptors. This helps in identifying the critical residues within the epitope.
3. X-ray crystallography and NMR spectroscopy: These techniques provide detailed information about the three-dimensional structure of antigen-antibody complexes, allowing for accurate identification of epitopes at an atomic level.

The results from epitope mapping can be useful in various applications, including vaccine design, diagnostic test development, and understanding the basis of autoimmune diseases.

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.

Chromosome walking is a historical term used in genetics to describe the process of mapping and sequencing DNA along a chromosome. It involves the identification and characterization of a specific starting point, or "landmark," on a chromosome, followed by the systematic analysis of adjacent DNA segments, one after another, in a step-by-step manner.

The technique typically employs the use of molecular biology tools such as restriction enzymes, cloning vectors, and genetic markers to physically isolate and characterize overlapping DNA fragments that cover the region of interest. By identifying shared sequences or markers between adjacent fragments, researchers can "walk" along the chromosome, gradually building up a more detailed map of the genetic sequence.

Chromosome walking was an important technique in the early days of genetics and genomics research, as it allowed scientists to systematically analyze large stretches of DNA before the advent of high-throughput sequencing technologies. Today, while whole-genome sequencing has largely replaced chromosome walking for many applications, the technique is still used in some specialized contexts where a targeted approach is required.

Trisomy is a genetic condition where there is an extra copy of a particular chromosome, resulting in 47 chromosomes instead of the typical 46 in a cell. This usually occurs due to an error in cell division during the development of the egg, sperm, or embryo.

Instead of the normal pair, there are three copies (trisomy) of that chromosome. The most common form of trisomy is Trisomy 21, also known as Down syndrome, where there is an extra copy of chromosome 21. Other forms include Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), which are associated with more severe developmental issues and shorter lifespans.

Trisomy can also occur in a mosaic form, where some cells have the extra chromosome while others do not, leading to varying degrees of symptoms depending on the proportion of affected cells.

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.

Nondisjunction is a genetic term that refers to the failure of homologous chromosomes or sister chromatids to properly separate during cell division, resulting in an abnormal number of chromosomes in the daughter cells. This can occur during either mitosis (resulting in somatic mutations) or meiosis (leading to gametes with an incorrect number of chromosomes).

In humans, nondisjunction of chromosome 21 during meiosis is the most common cause of Down syndrome, resulting in three copies of chromosome 21 (trisomy 21) in the affected individual. Nondisjunction can also result in other aneuploidies, such as Turner syndrome (X monosomy), Klinefelter syndrome (XXY), and Edwards syndrome (trisomy 18).

Nondisjunction is typically a random event, although maternal age has been identified as a risk factor for nondisjunction during meiosis. In some cases, structural chromosomal abnormalities or genetic factors may predispose an individual to nondisjunction events.

Brain mapping is a broad term that refers to the techniques used to understand the structure and function of the brain. It involves creating maps of the various cognitive, emotional, and behavioral processes in the brain by correlating these processes with physical locations or activities within the nervous system. Brain mapping can be accomplished through a variety of methods, including functional magnetic resonance imaging (fMRI), positron emission tomography (PET) scans, electroencephalography (EEG), and others. These techniques allow researchers to observe which areas of the brain are active during different tasks or thoughts, helping to shed light on how the brain processes information and contributes to our experiences and behaviors. Brain mapping is an important area of research in neuroscience, with potential applications in the diagnosis and treatment of neurological and psychiatric disorders.

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.

A telomere is a region of repetitive DNA sequences found at the end of chromosomes, which protects the genetic data from damage and degradation during cell division. Telomeres naturally shorten as cells divide, and when they become too short, the cell can no longer divide and becomes senescent or dies. This natural process is associated with aging and various age-related diseases. The length of telomeres can also be influenced by various genetic and environmental factors, including stress, diet, and lifestyle.

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.

Kinetochores are specialized protein structures that form on the centromere region of a chromosome. They play a crucial role in the process of cell division, specifically during mitosis and meiosis. The primary function of kinetochores is to connect the chromosomes to the microtubules of the spindle apparatus, which is responsible for separating the sister chromatids during cell division. Through this connection, kinetochores facilitate the movement of chromosomes towards opposite poles of the cell during anaphase, ensuring equal distribution of genetic material to each resulting daughter cell.

Artificial human chromosomes are artificially constructed chromosomes that contain human genetic material. They are created in a laboratory setting and can be used for various research purposes, such as studying the function of specific genes or creating cell lines with modified genetic characteristics. Artificial human chromosomes are typically created by combining pieces of human DNA with a scaffold made of non-human DNA, which provides structural support and allows the artificial chromosome to behave like a natural human chromosome. These chromosomes can then be introduced into human cells through various methods, such as microcell-mediated chromosome transfer or direct injection into the cell nucleus. It is important to note that artificial human chromosomes are not present in nature and are solely created for research purposes.

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.

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.

Chromosomal proteins, non-histone, are a diverse group of proteins that are associated with chromatin, the complex of DNA and histone proteins, but do not have the characteristic structure of histones. These proteins play important roles in various nuclear processes such as DNA replication, transcription, repair, recombination, and chromosome condensation and segregation during cell division. They can be broadly classified into several categories based on their functions, including architectural proteins, enzymes, transcription factors, and structural proteins. Examples of non-histone chromosomal proteins include high mobility group (HMG) proteins, poly(ADP-ribose) polymerases (PARPs), and condensins.

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.

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.

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.

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.

Chromosome fragility refers to the susceptibility of specific regions on chromosomes to break or become unstable during cell division. These fragile sites are prone to forming gaps or breaks in the chromosome structure, which can lead to genetic rearrangements, including deletions, duplications, or translocations.

Chromosome fragility is often associated with certain genetic disorders and syndromes. For example, the most common fragile site in human chromosomes is FRAXA, located on the X chromosome, which is linked to Fragile X Syndrome, a leading cause of inherited intellectual disability and autism.

Environmental factors such as exposure to chemicals or radiation can also increase chromosome fragility, leading to an increased risk of genetic mutations and diseases.

'Drosophila melanogaster' is the scientific name for a species of fruit fly that is commonly used as a model organism in various fields of biological research, including genetics, developmental biology, and evolutionary biology. Its small size, short generation time, large number of offspring, and ease of cultivation make it an ideal subject for laboratory studies. The fruit fly's genome has been fully sequenced, and many of its genes have counterparts in the human genome, which facilitates the understanding of genetic mechanisms and their role in human health and disease.

Here is a brief medical definition:

Drosophila melanogaster (droh-suh-fih-luh meh-lon-guh-ster): A species of fruit fly used extensively as a model organism in genetic, developmental, and evolutionary research. Its genome has been sequenced, revealing many genes with human counterparts, making it valuable for understanding genetic mechanisms and their role in human health and disease.

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.

A physical examination is a methodical and systematic process of evaluating a patient's overall health status. It involves inspecting, palpating, percussing, and auscultating different parts of the body to detect any abnormalities or medical conditions. The primary purpose of a physical examination is to gather information about the patient's health, identify potential health risks, diagnose medical conditions, and develop an appropriate plan for prevention, treatment, or further evaluation.

During a physical examination, a healthcare provider may assess various aspects of a patient's health, including their vital signs (such as blood pressure, heart rate, temperature, and respiratory rate), height, weight, body mass index (BMI), and overall appearance. They may also examine different organ systems, such as the cardiovascular, respiratory, gastrointestinal, neurological, musculoskeletal, and genitourinary systems, to identify any signs of disease or abnormalities.

Physical examinations are an essential part of preventive healthcare and are typically performed during routine check-ups, annual physicals, and when patients present with symptoms or concerns about their health. The specific components of a physical examination may vary depending on the patient's age, sex, medical history, and presenting symptoms.

A Physical Therapy Specialty refers to an area of practice within the field of physical therapy that requires advanced knowledge, skills, and experience beyond the entry-level degree. The American Board of Physical Therapy Specialties (ABPTS) recognizes nine specialty areas: Cardiovascular and Pulmonary, Clinical Electrophysiology, Geriatrics, Neurology, Oncology, Orthopaedics, Pediatrics, Sports, and Women's Health.

To become a board-certified specialist in one of these areas, physical therapists must meet specific education, practice, and examination requirements established by the ABPTS. Specialty certification is valid for ten years, after which specialists must recertify to maintain their credential. Board certification in a specialty area demonstrates a commitment to excellence and expertise in providing high-quality patient care within that specialized area of practice.

Physical education and training (PE/PT) is not a term typically used in medical terminology, but it generally refers to the process of teaching and learning physical skills, knowledge, and behaviors that contribute to an individual's overall health and well-being. According to the World Health Organization (WHO), physical education can be defined as:

"Education through physical activity that is planned, structured, and purposeful. It aims to develop and maintain physical competence, improve health and fitness, enhance personal and social skills, and promote enjoyment of physical activity."

Physical training, on the other hand, typically refers to a more focused and structured approach to improving physical fitness through exercise and other activities. Physical trainers or coaches may work with individuals or groups to develop specific training programs that target areas such as strength, flexibility, endurance, balance, and agility.

In medical contexts, PE/PT may be used to describe interventions aimed at improving physical function, reducing disability, or promoting overall health in patients with various medical conditions. For example, a physical therapy program might be prescribed for someone recovering from an injury or surgery, while a regular exercise routine might be recommended as part of a treatment plan for managing chronic diseases such as diabetes or heart disease.

The spindle apparatus is a microtubule-based structure that plays a crucial role in the process of cell division, specifically during mitosis and meiosis. It consists of three main components:

1. The spindle poles: These are organized structures composed of microtubules and associated proteins that serve as the anchoring points for the spindle fibers. In animal cells, these poles are typically formed by centrosomes, while in plant cells, they form around nucleation sites called microtubule-organizing centers (MTOCs).
2. The spindle fibers: These are dynamic arrays of microtubules that extend between the two spindle poles. They can be categorized into three types: kinetochore fibers, which connect to the kinetochores on chromosomes; astral fibers, which radiate from the spindle poles and help position the spindle within the cell; and interpolar fibers, which lie between the two spindle poles and contribute to their separation during anaphase.
3. Regulatory proteins: Various motor proteins, such as dynein and kinesin, as well as non-motor proteins like tubulin and septins, are involved in the assembly, maintenance, and dynamics of the spindle apparatus. These proteins help to generate forces that move chromosomes, position the spindle, and ultimately segregate genetic material between two daughter cells during cell division.

The spindle apparatus is essential for ensuring accurate chromosome separation and maintaining genomic stability during cell division. Dysfunction of the spindle apparatus can lead to various abnormalities, including aneuploidy (abnormal number of chromosomes) and chromosomal instability, which have been implicated in several diseases, such as cancer and developmental disorders.

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.

A plasmid is a small, circular, double-stranded DNA molecule that is separate from the chromosomal DNA of a bacterium or other organism. Plasmids are typically not essential for the survival of the organism, but they can confer beneficial traits such as antibiotic resistance or the ability to degrade certain types of pollutants.

Plasmids are capable of replicating independently of the chromosomal DNA and can be transferred between bacteria through a process called conjugation. They often contain genes that provide resistance to antibiotics, heavy metals, and other environmental stressors. Plasmids have also been engineered for use in molecular biology as cloning vectors, allowing scientists to replicate and manipulate specific DNA sequences.

Plasmids are important tools in genetic engineering and biotechnology because they can be easily manipulated and transferred between organisms. They have been used to produce vaccines, diagnostic tests, and genetically modified organisms (GMOs) for various applications, including agriculture, medicine, and industry.

Chromosomal instability is a term used in genetics to describe a type of genetic alteration where there are abnormalities in the number or structure of chromosomes within cells. Chromosomes are thread-like structures that contain our genetic material, and they usually exist in pairs in the nucleus of a cell.

Chromosomal instability can arise due to various factors, including errors in DNA replication or repair, problems during cell division, or exposure to environmental mutagens. This instability can lead to an increased frequency of chromosomal abnormalities, such as deletions, duplications, translocations, or changes in the number of chromosomes.

Chromosomal instability is associated with several human diseases, including cancer. In cancer cells, chromosomal instability can contribute to tumor heterogeneity, drug resistance, and disease progression. It is also observed in certain genetic disorders, such as Down syndrome, where an extra copy of chromosome 21 is present, and in some rare inherited syndromes, such as Bloom syndrome and Fanconi anemia, which are characterized by a high risk of cancer and other health problems.

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.

Physical exertion is defined as the act of applying energy to physically demandable activities or tasks, which results in various body systems working together to produce movement and maintain homeostasis. It often leads to an increase in heart rate, respiratory rate, and body temperature, among other physiological responses. The level of physical exertion can vary based on the intensity, duration, and frequency of the activity.

It's important to note that engaging in regular physical exertion has numerous health benefits, such as improving cardiovascular fitness, strengthening muscles and bones, reducing stress, and preventing chronic diseases like obesity, diabetes, and heart disease. However, it is also crucial to balance physical exertion with adequate rest and recovery time to avoid overtraining or injury.

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.

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.

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.

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.

Chromosome duplication is a genetic alteration where a segment of a chromosome or the entire chromosome is present in an extra copy. This results in an additional portion of genetic material, leading to an abnormal number of genes. In humans, chromosomes typically occur in pairs (23 pairs for a total of 46 chromosomes), and any deviation from this normal number can cause genetic disorders or developmental abnormalities.

Duplication can occur in various ways:

1. Duplication of a chromosome segment: A specific region of a chromosome is repeated, leading to an extra copy of the genes present in that area. This type of duplication may not always cause noticeable effects, depending on the size and location of the duplicated segment. However, if the duplicated region contains important genes or growth regulatory elements, it can lead to genetic disorders or developmental abnormalities.
2. Duplication of a whole chromosome: An entire chromosome is present in an extra copy, leading to 3 copies instead of the typical 2 copies (one from each parent). This condition is called trisomy and can result in various genetic disorders, depending on which chromosome is duplicated. For example, Trisomy 21 or Down syndrome occurs when there are three copies of chromosome 21.
3. Mosaicism: When an individual has some cells with a normal number of chromosomes and others with the extra copy, it is called mosaicism. The severity of symptoms depends on the proportion of cells carrying the duplication and the specific genes involved in the duplicated region.

Chromosome duplications can occur spontaneously during cell division or may be inherited from a parent. They are often detected through prenatal testing, such as amniocentesis or chorionic villus sampling (CVS), or through genetic testing for individuals with developmental delays, intellectual disabilities, or birth defects.

Body Surface Potential Mapping (BSPM) is a non-invasive medical technique used to record and analyze the electrical activity of the heart from the surface of the body. It involves placing multiple electrodes on the skin of the chest, back, and limbs to measure the potential differences between these points during each heartbeat. This information is then used to create a detailed, visual representation of the electrical activation pattern of the heart, which can help in the diagnosis and evaluation of various cardiac disorders such as arrhythmias, myocardial infarction, and ventricular hypertrophy.

The BSPM technique provides high-resolution spatial and temporal information about the cardiac electrical activity, making it a valuable tool for both clinical and research purposes. It can help identify the origin and spread of abnormal electrical signals in the heart, which is crucial for determining appropriate treatment strategies. Overall, Body Surface Potential Mapping is an important diagnostic modality that offers unique insights into the electrical functioning of the heart.

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.

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.

Diploidy is a term used in genetics to describe the state of having two sets of chromosomes in each cell. In diploid organisms, one set of chromosomes is inherited from each parent, resulting in a total of 2 sets of chromosomes.

In humans, for example, most cells are diploid and contain 46 chromosomes arranged in 23 pairs. This includes 22 pairs of autosomal chromosomes and one pair of sex chromosomes (XX in females or XY in males). Diploidy is a characteristic feature of many complex organisms, including animals, plants, and fungi.

Diploid cells can undergo a process called meiosis, which results in the formation of haploid cells that contain only one set of chromosomes. These haploid cells can then combine with other haploid cells during fertilization to form a new diploid organism.

Abnormalities in diploidy can lead to genetic disorders, such as Down syndrome, which occurs when an individual has three copies of chromosome 21 instead of the typical two. This extra copy of the chromosome can result in developmental delays and intellectual disabilities.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

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.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

'Escherichia coli' (E. coli) is a type of gram-negative, facultatively anaerobic, rod-shaped bacterium that commonly inhabits the intestinal tract of humans and warm-blooded animals. It is a member of the family Enterobacteriaceae and one of the most well-studied prokaryotic model organisms in molecular biology.

While most E. coli strains are harmless and even beneficial to their hosts, some serotypes can cause various forms of gastrointestinal and extraintestinal illnesses in humans and animals. These pathogenic strains possess virulence factors that enable them to colonize and damage host tissues, leading to diseases such as diarrhea, urinary tract infections, pneumonia, and sepsis.

E. coli is a versatile organism with remarkable genetic diversity, which allows it to adapt to various environmental niches. It can be found in water, soil, food, and various man-made environments, making it an essential indicator of fecal contamination and a common cause of foodborne illnesses. The study of E. coli has contributed significantly to our understanding of fundamental biological processes, including DNA replication, gene regulation, and protein synthesis.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.

The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.

Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.

Physical Mapping [6] Chromosome Walking This is significant in that it allows for the detailed mapping of specific regions of ... "Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts". ... February 2001). "A physical map of the human genome". Nature. 409 (6822): 934-41. Bibcode:2001Natur.409..934M. doi:10.1038/ ... Whole human chromosomes have been examined, such as the X chromosome, generating the location of genetic markers for numerous ...

https://en.wikipedia.org/wiki/Yeast_artificial_chromosome

15 February 2001). "A physical map of human chromosome 14". Nature. 409 (6822): 947-948. Bibcode:2001Natur.409..947B. doi: ... "Gene-mapping pioneer receive Lemelson-MIT prize". Associated Press. Retrieved April 24, 2003. Hood, Lee (July 2008). "A ... Molecular biologists were able to produce DNA probes and primers for use in DNA sequencing and mapping, gene cloning, and gene ... Hood directed the Human Genome Center's sequencing of portions of human chromosomes 14 and 15. At the University of Washington ...

https://en.wikipedia.org/wiki/Leroy_Hood

... a high resolution of physical mapping could be produced. FISH mapping using interphase chromosome is a conventional in situ ... Genetic mapping, another approach of gene mapping, can provide markers needed for the physical mapping. However, as the former ... However, naturally extended chromosomes might be folded back and produces alternative physical map orders. As a result, ... Alizadeh, F.; Karp, R. M.; Weisser, D. K.; Zweig, G. (1995). "Physical Mapping of Chromosomes Using Unique Probes". Journal of ...

https://en.wikipedia.org/wiki/Physical_mapping

O'Donovan N, Galvin M, Morgan JG (1999). "Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenetics and ... maps to human chromosome 4q21 like the closely related genes for MIG (SCYB9) and INP10 (SCYB10)". Cytogenetics and Cell ... Lee HH, Farber JM (1996). "Localization of the gene for the human MIG cytokine on chromosome 4q21 adjacent to INP10 reveals a ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4, All articles with unsourced ...

https://en.wikipedia.org/wiki/CXCL9

"Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34". Cytogenetic and Genome Research. 109 (4): 533. doi: ... The ALDH6A1 gene is mapped onto 14q24.3, between markers D14S71 and D14S986, and has an exon count of 12. The mRNA expression ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 14). ...

https://en.wikipedia.org/wiki/Aldehyde_dehydrogenase_6_family,_member_A1

O'Donovan N, Galvin M, Morgan JG (1999). "Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenetics and ... The gene for human PF4 is located on human chromosome 4. Platelet factor-4 is a 70-amino acid protein that is released from the ... Griffin CA, Emanuel BS, LaRocco P, Schwartz E, Poncz M (1987). "Human platelet factor 4 gene is mapped to 4q12----q21". ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 4, Wikipedia articles ...

https://en.wikipedia.org/wiki/Platelet_factor_4

O'Donovan N, Galvin M, Morgan JG (1999). "Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenet. Cell ... The gene for CXCL5 has four exons and is located on human chromosome 4 amongst several other CXC chemokine genes. CXCL5 has ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4, Cytokines). ...

https://en.wikipedia.org/wiki/CXCL5

O'Donovan N, Galvin M, Morgan JG (1999). "Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenetics and ... maps to human chromosome 4q21 like the closely related genes for MIG (SCYB9) and INP10 (SCYB10)". Cytogenetics and Cell ... maps to human chromosome 4q21 like the closely related genes for MIG (SCYB9) and INP10 (SCYB10)". Cytogenetics and Cell ... Its gene is located on human chromosome 4 along with many other members of the CXC chemokine family. CXCL9, -10, -11 have ...

https://en.wikipedia.org/wiki/CXCL11

"Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenetics and Cell Genetics. 84 (1-2): 39-42. doi: ... Genes on human chromosome 4, Cytokines, All stub articles, Human chromosome 4 gene stubs). ... The gene for CXCL10 is located on human chromosome 4 in a cluster among several other CXC chemokines. CXCL10 is secreted by ... Luster AD, Jhanwar SC, Chaganti RS, Kersey JH, Ravetch JV (May 1987). "Interferon-inducible gene maps to a chromosomal band ...

https://en.wikipedia.org/wiki/CXCL10

O'Donovan N, Galvin M, Morgan JG (1999). "Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenet. Cell ... Cxcl3 is directly regulated transcriptionally by BTG2 The gene for CXCL3 is located on chromosome 4 in a cluster of other CXC ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 4, Cytokines, All stub ...

https://en.wikipedia.org/wiki/CXCL3

O'Donovan N, Galvin M, Morgan JG (1999). "Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenetics and ... The gene for CXCL2 is located on human chromosome 4 in a cluster of other CXC chemokines. CXCL2 mobilizes cells by interacting ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 4, Protein pages needing ... a picture, Human gene pages with Wikidata item, Cytokines, All stub articles, Human chromosome 4 gene stubs). ...

https://en.wikipedia.org/wiki/CXCL2

O'Donovan N, Galvin M, Morgan J (1999). "Physical mapping of the CXC chemokine locus on human chromosome 4". Cytogenet Cell ... The gene for CXCL6 is located on human chromosome 4 in a cluster with other CXC chemokine genes. GRCh38: Ensembl release 89: ... Modi W, Chen Z (1998). "Localization of the human CXC chemokine subfamily on the long arm of chromosome 4 using radiation ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 4, Protein pages needing ...

https://en.wikipedia.org/wiki/CXCL6

It has been mapped to chromosome 2q31-36. It has been associated with PNKD. While not the same in all people, there are several ... Low amounts of energy due to hunger, lack of sleep, illness, or physical fatigue. Moderate to high presence of stress. ...

https://en.wikipedia.org/wiki/Paroxysmal_nonkinesigenic_dyskinesia

"Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22". Genomics. 63 (2): 271-8. doi:10.1006/geno. ... Genes on human chromosome 11, All stub articles, Human chromosome 11 gene stubs). ...

https://en.wikipedia.org/wiki/MTMR2

2005). "Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34". Cytogenet. Genome Res. 109 (4): 533. doi: ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 14, Commons category link ... 2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601-607. Bibcode:2003Natur.421..601H. doi: ... is on Wikidata, All stub articles, Human chromosome 14 gene stubs). ...

https://en.wikipedia.org/wiki/VSX2

https://en.wikipedia.org/wiki/ABCD4

"Physical mapping of the human carbonic anhydrase gene cluster on chromosome 8". Genomics. 10 (4): 882-8. doi:10.1016/0888-7543( ... CA1 is closely linked to CA2 and CA3 genes on chromosome 8, and it encodes a cytosolic protein which is found at the highest ... Nov 2014). "A proteome-scale map of the human interactome network". Cell. 159 (5): 1212-26. doi:10.1016/j.cell.2014.10.050. PMC ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 8, All articles with unsourced ...

https://en.wikipedia.org/wiki/CA1_(gene)

"Physical and genetic mapping of the Rhodobacter sphaeroides 2.4.1 genome: presence of two unique circular chromosomes". Journal ... Honeycutt, R. J.; McClelland, M.; Sobral, B. W. (1993). "Physical map of the genome of Rhizobium meliloti 1021". Journal of ... The main chromosome is therefore termed as an "rrn-lacking chromosome" or RLC, and so the clade of bacteria within Aureimonas ... Chromids have at least one core gene absent from the main chromosome. (Main chromosomes contain the bulk of the core genes of a ...

https://en.wikipedia.org/wiki/Secondary_chromosome

Smith CL, Cantor CR (1989). "Evolving strategies for making physical maps of mammalian chromosomes". Genome. 31 (2): 1055-8. ... While Bottom-up proteomics integrates cleaved products from all proteoforms produced by a gene into a single peptide map of the ... Although Top-down proteomics can be operated in relatively high output in order to successfully map proteome coverage at a ... "Mapping intact protein isoforms in discovery mode using top-down proteomics". Nature. 480 (7376): 254-258. Bibcode:2011Natur. ...

https://en.wikipedia.org/wiki/Top-down_proteomics

1 (1). Coe E, Kass LB (May 2005). "Proof of physical exchange of genes on the chromosomes". Proceedings of the National Academy ... Lobo I, Shaw K (2008). "Thomas Hunt Morgan, genetic recombination, and gene mapping". Nature Education. ... Compared to homologous chromosomes, which are similar to another chromosome but often have different alleles, sister chromatids ... The BIR pathway can also help to maintain the length of telomeres (regions of DNA at the end of eukaryotic chromosomes) in the ...

https://en.wikipedia.org/wiki/Homologous_recombination

... include physical mapping and genetic mapping. Physical mapping utilizes molecular biology techniques to inspect chromosomes. ... By this approach, physical map contigs can be "anchored" onto a genetic map. The clones used in the physical map contigs can ... genetic maps (also known as linkage maps) and physical maps. While both maps are a collection of genetic markers and gene loci ... while physical maps use actual physical distances usually measured in number of base pairs. While the physical map could be a ...

https://en.wikipedia.org/wiki/Gene_mapping

2000). "Physical and cDNA mapping in the DBH region of human chromosome 9q34". Hum. Hered. 50 (3): 151-7. doi:10.1159/000022905 ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 9, All stub articles, ... Eschenbrenner M, Jorns MS (Nov 1999). "Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme ...

https://en.wikipedia.org/wiki/SARDH

"Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21". Genomics. 18 (1): 92-9. doi: ... Engelkamp D, Schäfer BW, Mattei MG, Erne P, Heizmann CW (Jul 1993). "Six S100 genes are clustered on human chromosome 1q21: ... Jost M, Gerke V (Oct 1996). "Mapping of a regulatory important site for protein kinase C phosphorylation in the N-terminal ... "Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomenclature of ...

https://en.wikipedia.org/wiki/S100A10

"Fine physical mapping of the human matrix metalloproteinase genes clustered on chromosome 11q22.3". Genomics. 37 (2): 266-8. ... The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. MMP12 may play a role in aneurysm formation ... Genes on human chromosome 11, Use dmy dates from June 2020, Matrix metalloproteinases, Human proteins, EC 3.4.24, All stub ...

https://en.wikipedia.org/wiki/Matrix_metallopeptidase_12

"Fine physical mapping of the human matrix metalloproteinase genes clustered on chromosome 11q22.3". Genomics. 37 (2): 266-8. ... The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. MMP10 has been linked to cancer stem cell ... Jung JY, Warter S, Rumpler Y (1990). "Localization of stromelysin 2 gene to the q22.3-23 region of chromosome 11 by in situ ... Portal: Biology v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 11, All ...

https://en.wikipedia.org/wiki/MMP10

https://en.wikipedia.org/wiki/Interstitial_collagenase

"Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21". Genomics. 18 (1): 92-9. doi: ... This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. Involucrin is ... Genes on human chromosome 1, Protein pages needing a picture, All articles with unsourced statements, Articles with unsourced ...

https://en.wikipedia.org/wiki/Involucrin

Shao, Z; Mages, W; Schmitt, R (1994). "A physical map of the hyperthermophilic bacterium Aquifex pyrophilus chromosome". ...

https://en.wikipedia.org/wiki/Aquifex_pyrophilus

"An integrated physical and genetic map spanning chromosome band 10q24". Genomics. 43 (1): 85-8. doi:10.1006/geno.1997.4809. ... Genes on human chromosome 10, Clusters of differentiation, All stub articles, Membrane protein stubs). ...

https://en.wikipedia.org/wiki/ENTPD1

"Physical mapping of the human ELA1 gene between D12S361 and D12S347 on chromosome 12q13". Genomics. 29 (3): 766-8. doi:10.1006/ ... Studies of human pancreatic elastase 1 have shown that this serine protease maps to the chromosomal region 12q13 and it is ... Pancreatic elastase 1 is encoded by a single genetic locus on chromosome 12. ...

https://en.wikipedia.org/wiki/Pancreatic_elastase

Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. ... Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. ...

https://jmg.bmj.com/content/40/8/e95.responses

In this study, we constructed the first comprehensive physical map of wheat chromosome arm 5DS, thereby exploring its gene ... The construction of BAC-based physical maps of individual chromosomes reduces the complexity of this allohexaploid genome, ... The high-quality physical map constructed in this study paves the way for the assembly of a reference sequence, from which ... The physical map of 5DS was comprised of 164 contigs, of which 45 were organized into 21 supercontigs, covering 176 Mb ...

https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-015-1641-y

A high density physical map of chromosome 1BL supports evolutionary studies, map-based cloning and sequencing in wheat. ... of the physical length of the chromosome arm in the distal region. The 1AS physical map provides a framework for future genetic ... A Physical Map of the Short Arm of Wheat Chromosome 1A. *A tandem array of CBF/DREB1 genes is located in a major freezing ... A Physical Map of the Short Arm of Wheat Chromosome 1A.. Something went wrong when connecting to PubMed API. Click here to ...

https://cnrgv.toulouse.inrae.fr/en/Publications/2013/A-Physical-Map-of-the-Short-Arm-of-Wheat-Chromosome-1A

Dive into the research topics of Integration of the physical and genetic linkage map for human chromosome 13. Together they ... Integration of the physical and genetic linkage map for human chromosome 13. ...

https://augusta.elsevierpure.com/en/publications/integration-of-the-physical-and-genetic-linkage-map-for-human-chr/fingerprints/

Physical Chromosome Mapping * Polymorphism, Single Nucleotide / genetics * Protein Biosynthesis / genetics * Protein Structure ... We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes ...

https://pubmed.ncbi.nlm.nih.gov/12145752/

First physical map of a wheat chromosome (3B). A Physical Map of the 1-Gigabase Bread Wheat Chromosome 3B. Paux et al., Science ... WGA flow sorted chromosome of barley. Coupling amplified DNA from flow-sorted chromosomes to high-density SNP mapping in barley ... 1st Radiation Hybrid Maps. High-Resolution Radiation Hybrid Map of Wheat Chromosome 1D. Kalavacharla et al., Genetics. 2006 Jun ... The first business meeting of the IWGSC was held in conjunction with the International Triticeae Mapping Initiative (ITMI) ...

http://www.tiki-toki.com/timeline/entry/415575/IWGSC/

Genetic mapping experiments associated with mouse Gene Hey2, MGI:1341884 ... Chromosome. Reference. TEXT-Physical Mapping. 10. J:78475 Mouse Genome Informatics Scientific Curators, Chromosome assignment ... Chromosome Hey2 hairy/enhancer-of-split related with YRPW motif 2. MGI:1341884. 10 ...

https://www.informatics.jax.org/mapping/marker/MGI:1341884

View TEXT-Physical Mapping mapping: chromosome, reference, genes, notes, and experiment details. ... Chromosome. 9. * Reference. J:82104 Sinclair R, et al., Mouse Olfactory Receptor Genes: Reconciliation of multiple data ...

https://www.informatics.jax.org/mapping/MGI:3045854

Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing ... Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ... Changes to chromosome 1 may include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial ...

https://medlineplus.gov/genetics/chromosome/1/

https://en.wikipedia.org/wiki/Yeast_artificial_chromosome

Identification of tumor suppressor candidate genes by physical and sequence mapping of the TSLC1 region of human chromosome ... Identification of tumor suppressor candidate genes by physical and sequence mapping of the TSLC1 region of human chromosome ... Identification of tumor suppressor candidate genes by physical and sequence mapping of the TSLC1 region of human chromosome ... Identification of tumor suppressor candidate genes by physical and sequence mapping of the TSLC1 region of human chromosome ...

https://tohoku.elsevierpure.com/en/publications/identification-of-tumor-suppressor-candidate-genes-by-physical-an

Physical mapping of 5S rDNA and 35S rDNA Sequences on Somatic Chromosomes of Selected Onobrychis species. ...

https://avesis.omu.edu.tr/yayin/7331b1a4-4ba5-47fd-89d5-e69121df0a0e/physical-mapping-of-5s-rdna-and-35s-rdna-sequences-on-somatic-chromosomes-of-selected-onobrychis-species

Part II: Marsupial chromosomes and gene maps: Physical and Comparative Gene Maps in Marsupials . / Deakin, J.E. Marsupial ... Part II: Marsupial chromosomes and gene maps: Physical and Comparative Gene Maps in Marsupials . In Deakin JE, Waters PD, ... Deakin, J. E. (2010). Part II: Marsupial chromosomes and gene maps: Physical and Comparative Gene Maps in Marsupials . In J. E ... Deakin, J.E. / Part II: Marsupial chromosomes and gene maps : Physical and Comparative Gene Maps in Marsupials . Marsupial ...

https://researchprofiles.canberra.edu.au/en/publications/part-ii-marsupial-chromosomes-and-gene-maps-physical-and-comparat

atroparvus chromosomes. The obtained physical map represents 89.6% of the An. atroparvus genome. This genome has the second ... Results: In this study, we developed a physical genome map for Anopheles atroparvus, one of the dominant malaria vectors in ... Here we use high-coverage comparative physical genome mapping of three Anopheles species to test the extent of evolutionary ... Partial-arm translocations in evolution of malaria mosquitoes revealed by high-coverage physical mapping of the Anopheles ...

https://www.researchgate.net/publication/24426068_Present_habitat_suitability_for_Anopheles_atroparvus_Diptera_Culicidae_and_its_coincidence_with_former_malaria_areas_in_Mainland_Portugal

DICENTRIC CHROMOSOMES; KARYOTYPE EVOLUTION; GENOME SIZE; ARABIDOPSIS-THALIANA; NUMBER REDUCTION; BREAKAGE-FUSION; PHYSICAL MAP ... Functional centromeres, ensuring regular chromosome segregation in mitosis and meiosis, are a prerequisite for the evolutionary ... in chromosome regions with otherwise conserved collinearity can be explained by conventional mechanisms of chromosome ... success of pre-existing and new chromosome variants. The rapid progress in plant comparative genomics and cytogenetics brings ...

https://www.muni.cz/vyzkum/publikace/1210524

Genetic studies using map-based cloning, gene editing, RNA interference, haplotyping and association analyses identify a ... A physical map of the 1-gigabase bread wheat chromosome 3B. Science 322, 101-104 (2008). ... Differentially expressed genes between Fhb1 NILs that were identified by RNA-seq and mapped on chromosome 3B ... Primers used for fine mapping, gene cloning, association mapping, diagnostic marker development and gene transformation ...

https://www.nature.com/articles/s41588-019-0425-8?error=cookies_not_supported&code=d0cd207b-da14-428b-8f48-67e20b14f495

Trisomy for orthologues of about half of the genes on chromosome 21 (Hsa21) in Ts65Dn mice or just 33 of these genes in Ts1Rhr ... This paper reports a mouse model for intestinal tumours in which trisomy for a subset of mouse orthologues of chromosome 21 ... They reveal that trisomy for a subset of mouse equivalents of chromosome 21 genes reduces the incidence of some intestinal ... who carry three copies of chromosome 21, known as trisomy 21) show a reduced incidence of solid tumours. Other studies failed ...

https://www.nature.com/articles/nature06446?error=cookies_not_supported&code=249f52b8-1aaf-4d66-b43d-ebd8354281b8

A genetic map is a type of chromosome map that shows the relative locations of genes and other important features. ... Genetic Map. So, genetic map tells us the location of each gene on the chromosome. It is like having the address of each house ... A genetic map is based on the concept of genetic linkage: the closer two markers are to each other on a chromosome, the greater ... A genetic map (also called a linkage map) shows the relative location of genetic markers (reflecting sites of genomic variants ...

https://www.genome.gov/genetics-glossary/Genetic-Map

Physical Mapping Of A Sex Reversal Mutation On Papaya Y Chromosome (Proceedings) (3-Oct-06) ... SEX CHROMOSOMES IN FLOWERING PLANTS (Peer Reviewed Journal) (20-Aug-06) Transgenic Papaya: Can We Proceed Beyond the Hawaiian ... AUTOSOMAL DEGENERATION AS THE PROCESS FOR THE EVOLUTION OF A PRIMITIVE Y CHROMOSOME IN PAPAYA (Abstract Only) (3-Mar-06) ... MAPPING PHYSIOLOGICAL TRAITS IN CARICA PAPAYA USING MICROSATELLITE MARKERS (Abstract Only) (3-Mar-06) ...

https://www.ars.usda.gov/research/publications/publications-at-this-location/?modecode=53-20-03-35&locpubs=yes&filterYear=2006

Fluorescent in situ Hybridization on Mitotic Chromosomes of Mosquitoes, High-throughput Physical Mapping of Chromosomes using ... 2D and 3D Chromosome Painting in Malaria Mosquitoes, ... High-throughput Physical Mapping of Chromosomes using Automated ... Cytogenetic Map for Anopheles Nili: Application for Population Genetics and Comparative Physical Mapping Infection, Genetics ... A Physical Map for an Asian Malaria Mosquito, Anopheles Stephensi The American Journal of Tropical Medicine and Hygiene. Nov, ...

https://www.jove.com/author/Igor+V._Sharakhov

Physical and genetic map of the genome of Vibrio parahaemolyticus: presence of two chromosomes in Vibrio species. Mol Microbiol ... However, some bacteria have ,1 chromosome. Vibrio bacteria, for example, have 2 circular chromosomes: 1 (Ch1) and 2 (Ch2) (1-3 ... Heidelberg JF, Eisen JA, Nelson WC, Clayton RA, Gwinn ML, Dodson RJ, DNA sequence of both chromosomes of the cholera pathogen ... Time for a fresh look at the bacterial chromosome. Trends Microbiol. 1999;7:223-6. DOIPubMedGoogle Scholar ...

https://wwwnc.cdc.gov/eid/article/21/7/14-1055

44] An additional locus has been mapped to chromosome 7p22-p14. Symptoms, including sudden death, usually appear in childhood ... HCM is the single greatest cause of VF in athletes and is therefore the major entity to screen for during the physical ... Voltage mapping of the RV can be performed using a three-dimensional (3-D) mapping system and can show the presence of low- ... However, with newer techniques of mapping and ablation, more PVC and VT foci are being mapped to the LVOT and aortic cusp area ...

https://emedicine.medscape.com/article/158712-overview

... locate repetitive as well as single copy DNA sequences on conifer chromosomes and to integrate physical and genetic maps. b. ... e. The establishment of synteny maps will provide a powerful tool to investigate the quantitative conservation of map location ... the utility of such maps is limited and there is a recognised need to produce second generation (STS based) linkage maps ... Metaphase chromosomes of slash pine (Pinus elliottii) stained with DAPI (see publication list and search with the keyword Pinus ...

https://www.le.ac.uk/biology/phh4/conifer.htm

Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. Biochem Biophys Res Commun. 2001 Jun 8. 284 ... Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse. Mamm Genome. 1997 Feb. 8(2):98-101. [QxMD ... Hartnup disease is manifested by a wide clinical spectrum and phenotypic heterogeneity (see Physical for a complete discussion ...

https://emedicine.medscape.com/article/1115549-clinical

PHYSICAL BIN MAP OF EST ON WHEAT HOMOEOLOGOUS GROUP 4 CHROMOSOMES (Abstract Only) (15-Dec-03) ... IBM NEIGHBORS: CONSENSUS GENETIC MAP FOR PHYSICAL MAP SCAFFOLDING (Abstract Only) (15-Nov-03) ... ANCHORING 9371 MAIZE EST UNIGENES TO THE BAC CONTIG MAP BY TWO-DIMENSIONAL OVERGO HYBRIDIZATION (Peer Reviewed Journal) (16-Nov ... AN INTEGRATED COMPREHENSIVE MAP OF THE MAIZE GENOME (Abstract Only) (10-Nov-03) ...

https://www.ars.usda.gov/research/publications/publications-at-this-location/?modecode=50-70-15-00&locpubs=yes&filterYear=2003

Awarded PhD, University of London: "Physical mapping studies on the human X chromosome" ... I am very proud to have been part of the HGMP, involved in working on the first human chromosome to be mapped and sequenced. ... I retired in April 2023, having worked at the Sanger Institute since it opened in 1993, first in the Chromosome 22 Mapping ... I first worked in the Human Chromosome 22 mapping group, including 2 years spent working for The SNP Consortium (TSC) ...

https://www.sanger.ac.uk/person/cole-charlotte/

... technology and uses sequence tags generated by next generation sequencing for construction of bacterial artificial chromosome ( ... This sequence-based physical map will be useful to assemble the genome sequence of pea. Additionally, the 1.1 million WGP tags ... This sequence-based physical map will be useful to assemble the genome sequence of pea. Additionally, the 1.1 million WGP tags ... The physical map provides a framework for assembly of genome sequence and information for localization of genes that are ...

https://www.frontiersin.org/articles/10.3389/fpls.2019.00323/full

Xmatrx Infinity Enables Automated FISH for Physical Mapping of Chromosomes. About Dr. Sharakhov. Igor Sharakhov Ph.D., is an ... High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization. J. Vis. Exp. (64), e4007, doi:10.3791/ ... "We had lots of physical markings of chromosomes to do," said Dr. Sharakhov whose project is now published in the Journal of ... collaborations involving high-throughput screening of samples or other projects related to the physical mapping of chromosomes. ...

https://biogenex.com/testimonial/virginia-tech/?v=f24485ae434a

View on physical map chromosome 2 FISH map. Not on FISH map. ... Physical mapping Physical mapping Fingerprint Contig Builds ( ... This clone is being sequenced by the Chromosome 2 Sequencing Project. (View projects). Log in as a curator or sequencer to edit ...

https://www.sgn.cornell.edu/maps/physical/clone_info.pl?id=10772

Physical mapping of an origin of bidirectional replication at the centre of the Borrelia burgdorferi linear chromosome M. ... Oriloc: prediction of replication boundaries in unannotated bacterial chromosomes A.C. Frank, J.R. Lobry ...

https://lbbe.univ-lyon1.fr/fr/annuaires-des-membres/lobry-jean

The procedure involved replacing the genes in the original chromosome with synthetic versions and the finished synthesized chromosome was then integrated into a yeast cell. (wikipedia.org)
J:78475 Mouse Genome Informatics Scientific Curators, Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database. (jax.org)
Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Chromosome 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. (medlineplus.gov)
Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (medlineplus.gov)
The sequence was used to map 110 ESTs and to predict new genes, including two GenScan gene predictions that overlapped ESTs and were shown to be differentially expressed in tumorigenic and suppressed A549 cell lines. (elsevierpure.com)
Trisomy for orthologues of about half of the genes on chromosome 21 (Hsa21) in Ts65Dn mice or just 33 of these genes in Ts1Rhr mice resulted in a significant reduction in the number of intestinal tumours. (nature.com)
The physical map provides a framework for assembly of genome sequence and information for localization of genes that are difficult to find through positional cloning. (frontiersin.org)
Genes, Chromosomes and Cancer. (ed.ac.uk)
He described the phenomena of linkage and crossing over , which he and his students utilized to map the linear arrangement of genes along the chromosome. (infoplease.com)
Short tandem repeat polymorphisms (STRPs) and single strand conformational polymorphisms (SSCPs) were identified in YACs, cosmids, and genes within the BBS2 interval and ordered using both genetic and physical mapping data. (bgu.ac.il)
We have narrowed the interval containing the gene causing BBS on chromosome 16 to a 1.5 Mb interval and are analyzing trapped exons as possible candidate genes for BBS. (bgu.ac.il)
aegypti L5 annotated physical map has allowed interrogation of the exome for genes and single nucleotide polymorphisms (SNPs) associated with pyrethroid resistance. (cdc.gov)
The vgsc on chromosome 3 had the highest association, followed by genes proximal to vgsc. (cdc.gov)
HPX8C) or within clusters in chromosome 2 (three esterase clusters, two of CYP) and chromosome 3 (one cluster of 16 CYP325 and seven CYP9 genes). (cdc.gov)
Association mapping of factors that condition pyrethroid resistance in Aedes aegypti has consistently identified genes in multiple functional groups. (cdc.gov)
Genes and Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)
The potential for understanding human genetics increased greatly when the scientists behind the Human Genome Project successfully identified and mapped all the genes on human chromosomes in 2003. (msdmanuals.com)

In the absence of a finished quality genome sequence, insights into wheat genome structure and function have been accumulating through survey sequencing of individual chromosomes or chromosome-specific Bacterial Artificial Chromosome (BAC) libraries. (biomedcentral.com)

This is the process that was initially used for the Human Genome Project, however due to stability issues, YACs were abandoned for the use of Bacterial artificial chromosome [2] The bakers' yeast S. cerevisiae is one of the most important experimental organisms for studying eukaryotic molecular genetics. (wikipedia.org)
To further localize the gene(s) responsible for this partial suppression, a bacterial artificial chromosome (BAC) and P1-based artificial chromosome (PAC) contig was constructed, completely spanning the candidate region. (elsevierpure.com)
Whole genome profiling (WGP) is a sequence-based physical mapping technology and uses sequence tags generated by next generation sequencing for construction of bacterial artificial chromosome (BAC) contigs of complex genomes. (frontiersin.org)

In this study, we constructed the first comprehensive physical map of wheat chromosome arm 5DS, thereby exploring its gene space organization and evolution. (biomedcentral.com)
A Physical Map of the Short Arm of Wheat Chromosome 1A. (inrae.fr)
To aid map-based cloning and future genome sequencing projects, we constructed a BAC-based physical map of the short arm of wheat chromosome 1A (1AS). (inrae.fr)
High-Resolution Radiation Hybrid Map of Wheat Chromosome 1D. (tiki-toki.com)

Using a gene microarray containing ∼40 K NCBI UniGene EST clusters, PCR marker screening and BAC end sequences, we arranged 160 physical contigs (97 Mb or 35.3% of the chromosome arm) in a virtual order based on synteny with Brachypodium, rice and sorghum. (inrae.fr)
BAC end sequences and information from microarray hybridisation was used to anchor 3.8 Mbp of Illumina sequences from flow-sorted chromosome 1AS to BAC contigs. (inrae.fr)
By inserting large fragments of DNA, from 100-1000 kb, the inserted sequences can be cloned and physically mapped using a process called chromosome walking. (wikipedia.org)
Without these sequences, the chromosome will not be stable during extracellular replication, and would not be distinguishable from colonies without the vector. (wikipedia.org)
Physical mapping of 5S rDNA and 35S rDNA Sequences on Somatic Chromosomes of Selected Onobrychis species. (omu.edu.tr)
An examination of the content and distribution of repetitive DNA sequences to identify the location of such sequences within specific chromosomes and their conservation across species of the Pinaceae family. (le.ac.uk)
Characterisation and mapping of expressed sequence tags or EST's to serve as anchored sequences tagged sites (STS). (le.ac.uk)
Fluorescent in situ hybridisation (FISH) on metaphase chromosomes and on extended chromatin will be used to physically locate repetitive as well as single copy DNA sequences on conifer chromosomes and to integrate physical and genetic maps. (le.ac.uk)
In the current study, we have undertaken construction of a sequence-based physical map of pea to address the challenge in the assembly of these repetitive sequences and overcome the shortcomings of traditional restriction digestion based physical maps. (frontiersin.org)
TO: Those Interested FROM: Jonathan Arnold, ARNOLD at BSCF.UGA.EDU SUBJECT: ODS DISTRIBUTION INFORMATION ON Ordering DNA Sequences (ODS) ver 1.0 (c) 1990 The Univ of GA & A. Jamie Cuticchia PROGRAM DESCRIPTION: Programs are now available to assist in the in vitro reconstruction of chromosomes or chromosome fragments ('contig mapping') from a clonal library. (bio.net)
ODS: Ordering DNA Sequences, a physical mapping algorithm based on simulated annealing. (bio.net)

His books, classics in the literature of genetics, include The Physical Basis of Heredity (1919), Mechanism of Mendelian Heredity (rev. ed. 1923), Evolution and Genetics (1925), The Theory of the Gene (rev. ed. 1928), and Embryology and Genetics (1934). (infoplease.com)

Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. (bmj.com)

Functional centromeres, ensuring regular chromosome segregation in mitosis and meiosis, are a prerequisite for the evolutionary success of pre-existing and new chromosome variants. (muni.cz)
Both chromosomes are controlled coordinately in their replication and segregation ( 4 ). (cdc.gov)
The present study demonstrates segregation for the putative Ahl gene and mapping of such a gene to Chromosome 10, consistent with other independent mapping of Ahl for AHL in 10 strains of mice [Johnson et al. (cdc.gov)

The rapid progress in plant comparative genomics and cytogenetics brings new insights into the evolutionary fate of centromeres and mechanisms of chromosome number reduction (descending dysploidy). (muni.cz)

The physical map of 5DS was comprised of 164 contigs, of which 45 were organized into 21 supercontigs, covering 176 Mb with an N50 value of 2,173 kb. (biomedcentral.com)
Ordering of 80 contigs along the deletion bins of chromosome arm 5DS revealed small-scale breaks in syntenic blocks. (biomedcentral.com)
From the assembly of 25,918 high information content (HICF) fingerprints from a 1AS-specific BAC library, 715 physical contigs were produced that cover almost 99% of the estimated size of the chromosome arm. (inrae.fr)

The Plant Journal 39, 960-968 Dissecting large and complex genomes: flow sorting and BAC cloning of individual chromosomes from bread wheat. (tiki-toki.com)
Construction of comprehensive, informative second generation linkage maps for three Conifer genomes. (le.ac.uk)

Whole human chromosomes have been examined, such as the X chromosome, generating the location of genetic markers for numerous genetic disorders and traits. (wikipedia.org)
A genetic map (also called a linkage map) shows the relative location of genetic markers (reflecting sites of genomic variants) on a chromosome. (genome.gov)
By studying inheritance patterns, the relative order and location of genetic markers along a chromosome can be established. (genome.gov)

Comparison of genetic and synteny-based physical maps indicated that ∼50% of all genetic recombination is confined to 14% of the physical length of the chromosome arm in the distal region. (inrae.fr)

In the United States, the Human Genome Project first took clear form in February of 1988, with the release of the National Research Council (NRC) report Mapping and Sequencing the Human Genome. (wikipedia.org)
I retired in April 2023, having worked at the Sanger Institute since it opened in 1993, first in the Chromosome 22 Mapping group as part of the human genome project, then with COSMIC (Catalogue of Somatic Mutations in Cancer). (sanger.ac.uk)
Later, when the human genome mapping project (HGMP) groups came to an end, I joined the COSMIC team (Catalogue Of Somatic Mutations In Cancer) as a biocurator. (sanger.ac.uk)

We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10. (nih.gov)

A genetic map is based on the concept of genetic linkage: the closer two markers are to each other on a chromosome, the greater the probability that they will be inherited together. (genome.gov)
Initial studies with isozymes (1) indicate that pines exhibit conservation of gene order and this hypothesis will be examined further by the use of transcript based linkage maps. (le.ac.uk)
However, the utility of such maps is limited and there is a recognised need to produce second generation (STS based) linkage maps represented by living pedigrees. (le.ac.uk)
Linkage mapping using different populations identified a major QTL in the genomic region that contains the gene Waxy ( Wx ) on chromosome 6. (biomedcentral.com)

A mutation has been mapped to chromosome 14. (medscape.com)

Contig Mapping" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
This graph shows the total number of publications written about "Contig Mapping" by people in this website by year, and whether "Contig Mapping" was a major or minor topic of these publications. (umassmed.edu)
Below are the most recent publications written about "Contig Mapping" by people in Profiles. (umassmed.edu)
The theory behind the ODS program for 'contig mapping' can be found in: Cuticchia, A.J., Arnold, J., and W.E. Timberlake. (bio.net)

A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (medlineplus.gov)
In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. (medlineplus.gov)
Quantitative trait loci (QTLs) for starch paste viscosity in rice were analyzed using chromosome segment substitution lines (CSSLs) developed from the two cultivars 9311 and Nipponbare, which have same Wx-b allele. (biomedcentral.com)
Minor QTLs controlling starch viscosity traits were identified by using the chromosome segment substitution strategy. (biomedcentral.com)

In the fall of 2011 Dr. Sharakhov's laboratory installed an Xmatrx Infinity system to physically map chromosomes of various invertebrate species using automated fluorescent in situ hybridization (FISH). (biogenex.com)

We had lots of physical markings of chromosomes to do," said Dr. Sharakhov whose project is now published in the Journal of Visualized Experiments (JoVE): George, P., Sharakhova, M. V., Sharakhov, I. V. High-throughput Physical Mapping of Chromosomes using Automated in situ Hybridization. (biogenex.com)

With the insertion of a YAC into yeast cells, they can be propagated as linear artificial chromosomes, cloning the inserted regions of DNA in the process. (wikipedia.org)
Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (medlineplus.gov)
Contain a diploid set of chromosomes and make up the majority of human cells. (proprofs.com)

Here, we provide a chromosome-specific view into the organization and evolution of the D genome of bread wheat, in comparison to one of its ancestors, revealing recent genome rearrangements. (biomedcentral.com)

Yeast artificial chromosomes (YACs) are genetically engineered chromosomes derived from the DNA of the yeast, Saccharomyces cerevisiae[1], which is then ligated into a bacterial plasmid. (wikipedia.org)
5] The basic generation of linear yeast artificial chromosomes can be broken down into 6 main steps: Ligation of selectable marker into plasmid vector: this allows for the differential selection of colonies with, or without the marker gene. (wikipedia.org)
In March 2014, Jef Boeke of the Langone Medical Centre at New York University, published that his team has synthesized one of the S. cerevisiae 16 yeast chromosomes, the chromosome III, that he named synIII. (wikipedia.org)
Yeast expression vectors, such as YACs, YIps (yeast integrating plasmids), and YEps (yeast episomal plasmids), have an advantage over bacterial artificial chromosomes (BACs) in that they can be used to express eukaryotic proteins that require posttranslational modification. (wikipedia.org)
Introduction of a 1.1 Mb fragmented yeast artificial chromosome (YAC) mapping to this region completely suppresses the tumorigenic properties of a human NSCLC cell line, A549. (elsevierpure.com)

5 clones) that constitute ~95 % of the cumulative length of the map. (biomedcentral.com)
The map position of cDNA clones relative to the predicted location of quantitative trait loci will provide new opportunities to unravel the genetic control of polygenic traits in forest tree species. (le.ac.uk)
The ordering process is based on minimizing the sum of the linking distances between clones as a function of their ordering along the chromosome. (bio.net)

its size was estimated from pulsed-field gel electro- phoresis studies to be 300-360 kb This chromosome has been the subject of intensive study, not least because it contains the three genetic loci involved in mating-type control: MAT, HML and HMR. (wikipedia.org)
The establishment of synteny maps will provide a powerful tool to investigate the quantitative conservation of map location of trait loci across species and environments. (le.ac.uk)
Identification of the gene causing BBS on chromosome 16 could aid in the identification of the other BBS loci and could help in the understanding of RP and polygenic disorders such as obesity and hypertension. (bgu.ac.il)

The 1AS physical map provides a framework for future genetic mapping projects as well as the basis for complete sequencing of chromosome arm 1AS. (inrae.fr)

WGP is designed based on the use of sequence tags generated by next generation sequencing (NGS) and is a powerful alternative to traditional DNA fingerprinting based physical mapping technologies, and also simultaneously generates a partial genome sequence. (frontiersin.org)

Catherine to Jaroslav: "I believe we can do it with chromosome BAC libraries for 2003 sequencing! (tiki-toki.com)

The C57BL/6J (B6) and DBA/2J (D2) inbred strains of mice exhibit an age-related hearing loss (AHL) due to a recessive gene (Ahl) that maps to Chromosome 10. (cdc.gov)

With this completed, two processes can be used to obtain a sequenced genome, or region of interest: Physical Mapping [6] Chromosome Walking This is significant in that it allows for the detailed mapping of specific regions of the genome. (wikipedia.org)
Centromere loss and relocation in chromosome regions with otherwise conserved collinearity can be explained by conventional mechanisms of chromosome rearrangements or, as newly available phylogenomic and cytogenomic data suggest, by centromere inactivation through epigenetic chromatin modifications and/or intra-and inter-chromosomal recombination. (muni.cz)
Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions. (nature.com)

Down Syndrome (Trisomy 21) Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (msdmanuals.com)

Integrating genetic maps and models. (le.ac.uk)
c. align genetic maps based on recombination frequencies to physical maps of chromosomes. (quizlet.com)

The construction of BAC-based physical maps of individual chromosomes reduces the complexity of this allohexaploid genome, enables elucidation of gene space and evolutionary relationships, provides tools for map-based cloning, and serves as a framework for reference sequencing efforts. (biomedcentral.com)
Segregating populations will be characterised with both single locus (microsatellites) and multi-locus (AFLPs) marker systems providing framework maps for the eventual location of cDNAs generated from single pass sequencing. (le.ac.uk)

Buerstmayr, H., Ban, T. & Anderson, J. A. QTL mapping and marker‐assisted selection for Fusarium head blight resistance in wheat: a review. (nature.com)

The first business meeting of the IWGSC was held in conjunction with the International Triticeae Mapping Initiative (ITMI) summer workshop in Bozeman, MT, USA, 29-31 May 2005. (tiki-toki.com)

Dr. Sharakhov noted: "The system produced consistent results and is reliable, especially with large mapping projects. (biogenex.com)

Joined Paediatric Research Unit, Guys Hospital, London, working in the Duchenne muscular dystrophy molecular diagnostics group, and subsequently on X chromosome mapping studies for my PhD. (sanger.ac.uk)

1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (medlineplus.gov)
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome. (umassmed.edu)
The high resolution fine-map of the BBS2 locus facilitated the narrowing of the disease gene locus to a 1.5 Mb region. (bgu.ac.il)

WGP TM technology has proved to provide a robust physical map of the pea genome, which would have been difficult to assemble using traditional restriction digestion based methods. (frontiersin.org)

The high-quality physical map constructed in this study paves the way for the assembly of a reference sequence, from which breeding efforts will greatly benefit. (biomedcentral.com)
Development of a Sequence-Based Reference Physical Map of Pea (Pisum sativum L. (frontiersin.org)

A 12-Mb complete coverage BAC contig map in human chromosome 16p13.1-p11.2. (umassmed.edu)

Down syndrome is caused by an extra chromosome 21. (msdmanuals.com)
Turner Syndrome Turner syndrome is a sex chromosome abnormality in which girls are born with one of their two X chromosomes partially or completely missing. (msdmanuals.com)

This clone is being sequenced by the Chromosome 2 Sequencing Project. (cornell.edu)

abstract = "Loss of heterozygosity for a locus on human chromosome 11q22-23 is observed at high frequency in non-small cell lung carcinoma (NSCLC). (elsevierpure.com)

Clone hba-327b19 - Sol Genomics Network (sgn.cornell.edu)

2 Accumulation of Scientific Knowledge | Scientific Research in Education | The National Academies Press (nap.nationalacademies.org)

QTL identification for seed weight and size based on a high-density SLAF-seq genetic map in peanut (Arachis hypogaea L.) | BMC... (bmcplantbiol.biomedcentral.com)

Graph pangenome captures missing heritability and empowers tomato breeding | Nature (nature.com)

Non-catalytic motor domains enable processive movement and functional diversification of the kinesin-14 Kar3 | eLife (elifesciences.org)

The IQ Halo effect · Gwern.net (gwern.net)

The PRDM9 KRAB domain is required for meiosis and involved in protein interactions | Chromosoma (link.springer.com)

Brand Caverta Price * Sildenafil Citrate Shop Online - Jap India (japindia.com)

Anatomy50

Organisms2

Diseases14

Chemicals and Drugs7

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Psychiatry and Psychology1

Phenomena and Processes102

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena3

Information Science3

Health Care1

Optical mapping of Plasmodium falciparum chromosome 2. (1/1189)

Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (2/1189)

Structural analysis of Arabidopsis thaliana chromosome 5. VIII. Sequence features of the regions of 1,081,958 bp covered by seventeen physically assigned P1 and TAC clones. (3/1189)

Molecular characterization of the genes pcaG and pcaH, encoding protocatechuate 3,4-dioxygenase, which are essential for vanillin catabolism in Pseudomonas sp. strain HR199. (4/1189)

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (5/1189)

Cloning of mnuA, a membrane nuclease gene of Mycoplasma pulmonis, and analysis of its expression in Escherichia coli. (6/1189)

Characterization of the recD gene of Neisseria gonorrhoeae MS11 and the effect of recD inactivation on pilin variation and DNA transformation. (7/1189)

Cytochrome c550 is an essential component of the quinoprotein ethanol oxidation system in Pseudomonas aeruginosa: cloning and sequencing of the genes encoding cytochrome c550 and an adjacent acetaldehyde dehydrogenase. (8/1189)

Physical Chromosome Mapping

Chromosome Mapping

Chromosomes

Chromosomes, Bacterial

Hybrid Cells

Molecular Sequence Data

Base Sequence

Genetic Linkage

Amino Acid Sequence

Cloning, Molecular

Chromosome Banding

X Chromosome

Chromosome Aberrations

Sex Chromosomes

DNA, Complementary

Chromosomes, Human, Pair 1

Chromosomes, Human

Chromosome Segregation

Chromosomes, Human, Pair 7

Chromosomes, Human, Pair 11

Chromosomes, Human, Pair 17

Chromosomes, Plant

Chromosomes, Human, Pair 6

Chromosome Deletion

Chromosomes, Human, Pair 9

Chromosomes, Human, Pair 21

Chromosomes, Fungal

Chromosomes, Human, 6-12 and X

Chromosomes, Human, Pair 2

Chromosomes, Mammalian

Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 22

Chromosomes, Human, Pair 13

Chromosome Pairing

Chromosomes, Human, Pair 4

Chromosomes, Human, Pair 10

Chromosomes, Artificial, Bacterial

Chromosomes, Human, Pair 19

Chromosomes, Human, Pair 8

Chromosomes, Human, Y

Chromosome Disorders

Chromosomes, Human, Pair 5

Chromosomes, Human, Pair 12

Genetic Markers

Chromosomes, Human, X

Chromosome Painting

Chromosomes, Human, 1-3

Chromosomes, Artificial, Yeast

Chromosomes, Human, Pair 15

Karyotyping

In Situ Hybridization, Fluorescence

Chromosomes, Human, Pair 14

Chromosomes, Human, Pair 18

Chromosomes, Human, Pair 20

Chromosomes, Human, 16-18

Chromosomes, Human, 13-15

Chromosome Breakage

Chromosomes, Human, 21-22 and Y

Physical Fitness

Ring Chromosomes

Chromosome Inversion

Chromosome Positioning

Chromosomes, Human, 4-5

Crosses, Genetic

Centromere

X Chromosome Inactivation

Recombination, Genetic

Translocation, Genetic

Mutation

Chromosomes, Insect

Meiosis

Microsatellite Repeats

Phenotype

Lod Score

Chromosome Structures

Pedigree

Motor Activity

Chromosomes, Human, 19-20

Metaphase

Aneuploidy