Chromosomes: 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)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: 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.X Chromosome: 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: 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)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: 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.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: 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.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosome Disorders: 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)Chromosomes, Artificial, Bacterial: 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.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Painting: 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.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: 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.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Artificial, Yeast: 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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: 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.Molecular Sequence Data: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Inversion: 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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: 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.Centromere: 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.Meiosis: 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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid Cells: 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.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: 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).Metaphase: 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.Mitosis: 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.Recombination, Genetic: 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.Mutation: 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.Microsatellite Repeats: 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).Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: 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.Crosses, Genetic: 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.Cloning, Molecular: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.DNA: 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).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Amino Acid Sequence: 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.Nucleic Acid Hybridization: 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)Models, Genetic: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nondisjunction, Genetic: 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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosomes, Artificial, Human: 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.Telomere: 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.Blotting, Southern: 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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes: 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.Chromosome Walking: 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.Polymerase Chain Reaction: 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.Chromosomal Proteins, Non-Histone: 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.Haplotypes: 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.Repetitive Sequences, Nucleic Acid: 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).Spindle Apparatus: 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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.DNA Probes: 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.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: 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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Plasmids: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromatids: Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Multigene Family: 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)Genetic Variation: Genotypic differences observed among individuals in a population.DNA-Binding Proteins: 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.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Gene Deletion: 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.Polymorphism, Genetic: 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.Species Specificity: 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.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Escherichia coli: 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.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.Interphase: The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genome, Human: 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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Polymorphism, Restriction Fragment Length: 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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosome Fragile Sites: Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Sequence Tagged Sites: 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.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Homozygote: An individual in which both alleles at a given locus are identical.Philadelphia Chromosome: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.DNA, Neoplasm: DNA present in neoplastic tissue.DNA, Complementary: 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.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Bacterial Proteins: Proteins found in any species of bacterium.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

Specific chromosomal aberrations and amplification of the AIB1 nuclear receptor coactivator gene in pancreatic carcinomas. (1/412)

To screen pancreatic carcinomas for chromosomal aberrations we have applied molecular cytogenetic techniques, including fluorescent in situ hybridization, comparative genomic hybridization, and spectral karyotyping to a series of nine established cell lines. Comparative genomic hybridization revealed recurring chromosomal gains on chromosome arms 3q, 5p, 7p, 8q, 12p, and 20q. Chromosome losses were mapped to chromosome arms 8p, 9p, 17p, 18q, 19p, and chromosome 21. The comparison with comparative genomic hybridization data from primary pancreatic tumors indicates that a specific pattern of chromosomal copy number changes is maintained in cell culture. Metaphase chromosomes from six cell lines were analyzed by spectral karyotyping, a technique that allows one to visualize all chromosomes simultaneously in different colors. Spectral karyotyping identified multiple chromosomal rearrangements, the majority of which were unbalanced. No recurring reciprocal translocation was detected. Cytogenetic aberrations were confirmed using fluorescent in situ hybridization with probes for the MDR gene and the tumor suppressor genes p16 and DCC. Copy number increases on chromosome 20q were validated with a probe specific for the nuclear receptor coactivator AIB1 that maps to chromosome 20q12. Amplification of this gene was identified in six of nine pancreatic cancer cell lines and correlated with increased expression.  (+info)

Angiopoietins 3 and 4: diverging gene counterparts in mice and humans. (2/412)

The angiopoietins have recently joined the members of the vascular endothelial growth factor family as the only known growth factors largely specific for vascular endothelium. The angiopoietins include a naturally occurring agonist, angiopoietin-1, as well as a naturally occurring antagonist, angiopoietin-2, both of which act by means of the Tie2 receptor. We now report our attempts to use homology-based cloning approaches to identify new members of the angiopoietin family. These efforts have led to the identification of two new angiopoietins, angiopoietin-3 in mouse and angiopoietin-4 in human; we have also identified several more distantly related sequences that do not seem to be true angiopoietins, in that they do not bind to the Tie receptors. Although angiopoietin-3 and angiopoietin-4 are strikingly more structurally diverged from each other than are the mouse and human versions of angiopoietin-1 and angiopoietin-2, they appear to represent the mouse and human counterparts of the same gene locus, as revealed in our chromosomal localization studies of all of the angiopoietins in mouse and human. The structural divergence of angiopoietin-3 and angiopoietin-4 appears to underlie diverging functions of these counterparts. Angiopoietin-3 and angiopoietin-4 have very different distributions in their respective species, and angiopoietin-3 appears to act as an antagonist, whereas angiopoietin-4 appears to function as an agonist.  (+info)

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. (3/412)

We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best evidence for linkage is on chromosome 20 with potentially separable peaks located on both the long and short arms. The unweighted multipoint maximum logarithm of odds score (MLS) was 3.08 on 20p (location, chi = 19.5 cM) under an additive model, whereas the weighted MLS was 2.06 on 20q (chi = 57 cM, recurrence risk,lambda(s) = 1. 25, P = 0.009). Weighted logarithm of odds scores of 2.00 (chi = 69.5 cM, P = 0.010) and 1.92 (chi = 18.5 cM, P = 0.013) were also observed. Ordered subset analyses based on sibships with extreme mean values of diabetes-related quantitative traits yielded sets of families who contributed disproportionately to the peaks. Two-hour glucose levels in offspring of diabetic individuals gave a MLS of 2. 12 (P = 0.0018) at 9.5 cM. Evidence from this and other studies suggests at least two diabetes-susceptibility genes on chromosome 20. We have also screened the gene for maturity-onset diabetes of the young 1, hepatic nuclear factor 4-a (HNF-4alpha) in 64 affected sibships with evidence for high chromosomal sharing at its location on chromosome 20q. We found no evidence that sequence changes in this gene accounted for the linkage results we observed.  (+info)

Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. (4/412)

Trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. The presence of these trisomies in related benign fibrous lesions of bone has not been previously addressed. In this study, 22 specimens from 19 patients diagnosed with desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, or fibrous dysplasia were examined by cytogenetic analysis of short-term cultures and bi-color fluorescence in situ hybridization of cytological touch preparations or paraffin-embedded tissue with centromeric probes for chromosomes 8 and 20. Trisomy 8 and trisomy 20 were detected by molecular cytogenetic methodologies in 15 specimens, including 10 primary bone lesions. Traditional cytogenetic analysis revealed trisomy 8 in two cases of osteofibrous dysplasia. Our findings demonstrate that trisomy 8 and trisomy 20 are also nonrandom aberrations in histologically similar, but clinically distinct, benign fibrous lesions of bone.  (+info)

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (5/412)

Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or hereditary. The 200K point mutation in the PRNP gene is the most frequent cause of hereditary CJD, accounting for >70% of families with CJD worldwide. Prevalence of the 200K variant of familial CJD is especially high in Slovakia, Chile, and Italy, and among populations of Libyan and Tunisian Jews. To study ancestral origins of the 200K mutation-associated chromosomes, we selected microsatellite markers flanking the PRNP gene on chromosome 20p12-pter and an intragenic single-nucleotide polymorphism at the PRNP codon 129. Haplotypes were constructed for 62 CJD families originating from 11 world populations. The results show that Libyan, Tunisian, Italian, Chilean, and Spanish families share a major haplotype, suggesting that the 200K mutation may have originated from a single mutational event, perhaps in Spain, and spread to all these populations with Sephardic migrants expelled from Spain in the Middle Ages. Slovakian families and a family of Polish origin show another unique haplotype. The haplotypes in families from Germany, Sicily, Austria, and Japan are different from the Mediterranean or eastern European haplotypes. On the basis of this study, we conclude that founder effect and independent mutational events are responsible for the current geographic distribution of hereditary CJD associated with the 200K mutation.  (+info)

Angiopoietin-3, a novel member of the angiopoietin family. (6/412)

A cDNA clone encoding angiopoietin-3 protein (Ang3), a novel member of the angiopoietin family, was identified. Ang3 cDNA was cloned from a human aorta cDNA library. Ang3 is a 503 amino acid protein having 45.1% and 44.7% identity with human angiopoietin-1 and human angiopoietin-2, respectively. Ang3 mRNA is expressed in lung and cultured human umbilical vein endothelial cells (HUVECs). Ang3 mRNA expression in HUVECs was slightly decreased by vascular endothelial cell growth factor treatment, suggesting that the regulation of Ang3 mRNA expression is different from that of Ang2.  (+info)

Centrosomal kinase AIK1 is overexpressed in invasive ductal carcinoma of the breast. (7/412)

A centrosomal serine/threonine kinase, AIK1(3)/breast tumor amplified kinase/aurora2, which was recently identified as an oncogene, shows high amino acid identity with chromosome segregation kinases, fly Aurora, and yeast Ipl1. Immunohistochemical analyses of invasive ductal adenocarcinomas of the breast revealed that overexpression of AIK1 was observed in 94% of the cases, irrespective of the histopathological type, whereas the protein was not detected in normal ductal and lobular cells. Benign breast lesions including fibrocystic disease and fibroadenoma (epithelial components) displayed weakly detectable AIK1 expression in part of the lesions. This is the first immunohistochemical report of AIK1 expression in primary human breast carcinomas. Although the physiological function(s) of AIK1 kinase during cell division remains to be determined, the markedly high positivity of AIK1 staining in the cancer lesions suggested a possible involvement of its overexpression in the tumorigenesis of some of breast cancer cells.  (+info)

The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. (8/412)

DNA methylation in mammals is required for embryonic development, X chromosome inactivation and imprinting. Previous studies have shown that methylation patterns become abnormal in malignant cells and may contribute to tumorigenesis by improper de novo methylation and silencing of the promoters for growth-regulatory genes. RNA and protein levels of the DNA methyltransferase DNMT1 have been shown to be elevated in tumors, however murine stem cells lacking Dnmt1 are still able to de novo methylate viral DNA. The recent cloning of a new family of DNA methyltransferases (Dnmt3a and Dnmt3b) in mouse which methylate hemimethylated and unmethylated templates with equal efficiencies make them candidates for the long sought de novo methyltransferases. We have investigated the expression of human DNMT1, 3a and 3b and found widespread, coordinate expression of all three transcripts in most normal tissues. Chromosomal mapping placed DNMT3a on chromosome 2p23 and DNMT3b on chromosome 20q11.2. Significant overexpression of DNMT3b was seen in tumors while DNMT1 and DNMT3a were only modestly over-expressed and with lower frequency. Lastly, several novel alternatively spliced forms of DNMT3b, which may have altered enzymatic activity, were found to be expressed in a tissue-specific manner.  (+info)

1. Alagille syndrome: spectrum of clinical presentation in India. http://www.ncbi.nlm.nih.gov/pubmed/22692667. Gupta P, Bhakhri BK, Paul P.. Indian J Gastroenterol.2012Jun;31(3):149-50.doi:10.1007/s12664-012-0199-8. No abstract available.. PMID: 22692667 [PubMed - indexed for MEDLINE]. 2. Alagille syndrome: a rare disease in an adolescent.. http://www.ncbi.nlm.nih.gov/pubmed/22678460. Guru Murthy GS, Rana BS, Das A, Thapa BR, Duseja AK, Dhiman RK, Chawla YK.. Dig Dis Sci. 2012Nov;57(11):3035-7. doi:10.1007/s10620-012-2226-0.Epub 2012Jun 8. No abstract. available.. PMID: 22678460 [PubMed - indexed for MEDLINE]. 3. Alagille syndrome with prominent skin manifestations.. http://www.ncbi.nlm.nih.gov/pubmed/16394388. Sengupta S, Das JK, Gangopadhyay A.. Indian J Dermatol Venereol Leprol. 2005 Mar-Apr;71(2):119-21.. PMID: 16394388 [PubMed - indexed for MEDLINE] Free Article. 4. Alagille syndrome.. http://www.ncbi.nlm.nih.gov/pubmed/12420920. Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare ...
Alagille syndrome is a genetic disorder affecting heart, liver and other body systems. Alagille syndrome pictures, symptoms, causes and treatment explained.
Describes Alagille syndrome, a rare, inherited disorder that affects the liver. Covers the causes, symptoms, diagnosis, treatment, and long-term outlook.
|.. ۞ One hBUB1 somatic mutation that led to an amino acid substitution. Where the three human syntrophin genes, most abundant in heart and skeletal muscle, differentiate as a human macrophage model. Plays an important role in CC synapse formation and in the organization of UTRN and CC acetylcholine receptors. The activity of cytochrome P450…
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. 24 ...
My son is 15 weeks old and has recently been diagnosed with Alagille syndrome. Over the last couple of weeks he has started itching his eyes and face. Im not sure he can co-ordinate his hand to the...
Mehta, J.S., Vithana, E.N., Tan, D.T.H., Yong, V.H.K., Aung, T., Yam, G.H.F., Law, R.W.K., Pang, C.P. (2008). Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset fuchs endothelial corneal dystrophy. Investigative Ophthalmology and Visual Science 49 (1) : 184-188. [email protected] Repository. https://doi.org/10.1167/iovs.07- ...
She was treated with oral calcium and calcitriol and her general fatigue markedly improved.. Her mother and younger sister did not show clinical or laboratory evidence suggestive of an abnormal regulation of calcium and phosphate homeostasis.. She was referred to a geneticist for further evaluation. After obtaining written informed consent, genomic DNA was extracted from leukocytes of our patient by standard methods. Methylation analysis of the promoter regions of the splice variants XLαs and A/B was performed by bisulfite sequencing.26 The molecular genetic result revealed a GNAS gene methylation defect of the A/B promoter, which is specific for PHP type Ib. The STX16 deletion was not detectable in the patient.. At her follow-up, at the age of 17 the patient remained without symptoms, having normal puberty, height 173cm (94th percentile) and obesity with a BMI of 31.24kg/m2. Currently her regimen consists of both calcitriol and calcium supplements with poor adherence to treatment. Her serum ...
PURPOSE: To investigate the functional role that the zinc e-box binding homeobox 1 (ZEB1) gene, which underlies the genetic basis of posterior polymorphous corneal dystrophy 3 (PPCD3), plays in corneal endothelial cell proliferation, apoptosis, migration, and barrier function. METHODS: A human corneal endothelial cell line (HCEnC-21T) was transfected with siRNA targeting ZEB1 mRNA. Cell proliferation, apoptosis, migration, and barrier assays were performed: Cell proliferation was assessed with cell counting using a hemocytometer; cell apoptosis, induced by either ultraviolet C (UVC) radiation or doxorubicin treatment, was quantified by measuring cleaved caspase 3 (cCASP3) protein levels; and cell migration and barrier function were monitored with electric cell-substrate impedance sensing (ECIS ...
Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal.
The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).
J:58809 Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ, The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum Mol Genet. 1999 Dec;8(13):2443-9 ...
Inimese 20. kromosoom ehk kromosoom 20 on inimese üks väiksemaid kromosoome. Nagu kõiki teisi autosoome ehk mittesugukromosoome, on inimesel ka 20. kromosoomi kaks koopiat.. Inimese 20. kromosoom sisaldab umbes 63 miljonit aluspaari[1] ehk ligikaudu 2% kogu inimese DNA-st.. Selles kromosoomis on leitud 1025 geeni, mille seas on ka 541 valke kodeerivat ja 204 pseudogeeni[1].. On leitud seoseid 20. kromosoomis paiknevate geenide ja selliste haiguste vahel nagu Alagillei sündroom, Creutzfeldti-Jakobi tõbi, tsöliaakia, leukeemia, Okihiro sündroom, brahhüdaktüülia (lühisõrmsus).. ...
Alagille syndrome is an autosomal dominant inherited disorder associated with liver, heart, eye and skeletal abnormalities, and characteristic facial features.
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ZNF286B兔多克隆抗体(ab110696)可与人样本反应并经WB实验严格验证,被1篇文献引用。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
ZNF493兔多克隆抗体(ab107876)可与人样本反应并经WB实验严格验证,被1篇文献引用。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
The flow acetone staining technique (FAST) allows one to concurrently study physical cell features revealed by light‐scatter analysis, surface/nuclear phenotypes, and cellular DNA content
Alagille syndrome is an autosomal dominant disorder with high penetrance but variable expressivity. Alagille syndrome 1 (ALGS1; MIM 118450) is caused by mutations in the JAG1 gene, encoding jagged-1, a ligand for the Notch receptors. Alagille syndrome 2 (ALGS2; MIM 610205) is caused by mutations in NOTCH2, which encodes a transmembrane Notch receptor. Interactions between Notch ligands and receptors regulate signaling pathways important for cell fate determination. The main clinical findings of Alagille syndrome include cholestasis due to bile duct paucity, congenital heart defects, skeletal abnormalities, a characteristic facial appearance, eye abnormalities, and renal disease. Cardiovascular findings include tetralogy of Fallot, peripheral pulmonary artery stenosis, atrial and/or ventricular septal defects, and coarctation of the aorta. Butterfly vertebra is the most common skeletal finding, particularly in individuals with JAG1 mutations. Other findings include narrowing of interpeduncular ...
Alagille syndrome is an autosomal dominant disorder with high penetrance but variable expressivity. Alagille syndrome 1 (ALGS1; MIM 118450) is caused by mutations in the JAG1 gene, encoding jagged-1, a ligand for the Notch receptors. Alagille syndrome 2 (ALGS2; MIM 610205) is caused by mutations in NOTCH2, which encodes a transmembrane Notch receptor. Interactions between Notch ligands and receptors regulate signaling pathways important for cell fate determination. The main clinical findings of Alagille syndrome include cholestasis due to bile duct paucity, congenital heart defects, skeletal abnormalities, a characteristic facial appearance, eye abnormalities, and renal disease. Cardiovascular findings include tetralogy of Fallot, peripheral pulmonary artery stenosis, atrial and/or ventricular septal defects, and coarctation of the aorta. Butterfly vertebra is the most common skeletal finding, particularly in individuals with JAG1 mutations. Other findings include narrowing of interpeduncular ...
MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 10, also known as mody10, is related to maturity-onset diabetes of the young, and has symptoms including maturity-onset diabetes of the young An important gene associated with Maturity-Onset Diabetes of the Young, Type 10 is INS (Insulin). The drugs Moxonidine and Pitavastatin have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and breast ...
Alagille syndrome (ALGS) is an autosomal dominant condition, primarily caused by mutations in JAGGED1. ALGS is defined by cholestatic liver disease, cardiac disease and involvement of the face, skeleton, and eyes with variable expression of these features. Renal involvement has been reported though not formally described. The objective of this study was to systematically characterize the renal involvement in ALGS. We performed a retrospective review of 466 JAGGED1 mutation-positive ALGS patients. Charts were reviewed for serum biochemistries, renal ultrasounds or other imaging, urinalysis, and clinical reports from pediatric nephrologists. The clinical data were reviewed by two pediatric hepatologists and a pediatric nephrologist. Of 466 charts reviewed we found 187 yielded evaluable renal information. Of these, 73/187 were shown to have renal involvement, representing 39% of the study cohort. Renal dysplasia was the most common anomaly seen. Genotype analysis of the JAGGED1 mutations in the ...
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene. The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene. GRCh38: Ensembl release 89: ENSG00000100987 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000033080 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". Semina EV, Mintz-Hittner HA, Murray JC (Apr 2000). "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics. 63 (2): 289-93. doi:10.1006/geno.1999.6093. PMID 10673340. "Entrez Gene: VSX1 visual system homeobox ...
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Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... The two sex chromosomes, XX in females XY in males, are also derived half from each parent. A female inherits one X from her ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ...
Human females are typically XX; males are typically XY. The remaining pairs of chromosome are found in both sexes and are ... In humans and other mammal species, sex is determined by two sex chromosomes called the X chromosome and the Y chromosome. ... Most animals and some plants have paired chromosomes, and are described as diploid. They have two versions of each chromosome, ... Each chromosome of a matching (homologous) pair is structurally similar to the other, and has a very similar DNA sequence (loci ...
In humans, most mammals, and some other species, two of the chromosomes, called the X chromosome and Y chromosome, code for sex ... where just one chromosome type appears in pairs for the female but alone in the males, while all other chromosomes appear in ... the fact that males have XY sex chromosomes and females have XX sex chromosomes. The first clues to the existence of a factor ... In humans, half of spermatozoons carry X chromosome and the other half Y chromosome. A single gene (SRY) present on the Y ...
... is a technique for genetic sex determination in those species where XX chromosome pair is present. Nuclear ... Barr body is the inactive X chromosome which lies condensed in the nucleus of somatic cells. A typical human female has only ... Though a Barr body can be sought in any human nucleated cell, circulating mononuclear cells are commonly used for this purpose ... one Barr body per somatic cell, while a typical human male has none. ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... It follows from the definition that male humans have a monoploid number of 22, while females have 23 (including one X-X pair). ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ...
As with humans, female cats have paired sex chromosomes, XX, and male cats have XY sex chromosomes. The female cat, therefore, ... Such a combination of chromosomes could produce tortoiseshell or calico markings in the male, in the same way as XX chromosomes ... a male calico would have to have a rare condition where they have three sex chromosomes (two X chromosomes and one Y chromosome ... with one color linked to the maternal X chromosome and a second color linked to the paternal X chromosome. Because males only ...
XX), and are called the homogametic sex. Males have two distinct sex chromosomes (XY), and are called the heterogametic sex. ... the sex of an individual is determined by a pair of sex chromosomes (gonosomes). Females have two of the same kind of sex ... The human genome is the total collection of genes in a human being contained in the human chromosome, composed of over three ... Genetic Chromosomal Human evolutionary genetics Human genome Human genetic clustering List of Mendelian traits in humans ...
The NDUFA8 gene is located on the q arm of chromosome 9 in position 33.2 and spans 27,354 base pairs. The gene produces a 20 ... Related pseudogenes have also been identified on four other chromosomes. The human NDUFA8 gene codes for a subunit of Complex I ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 is an enzyme that in humans is encoded by the NDUFA8 gene. The ... Smeitink J, van den Heuvel L (1999). "Human mitochondrial complex I in health and disease". Am. J. Hum. Genet. 64 (6): 1505-10 ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
The RH procedure was used to map 14 DNA probes from a region of human chromosome 21 spanning 20 megabase pairs. Deloukas, Panos ... If two given DNA markers are far apart on the initial chromosome, then it is likely that they will appear in distinct fragments ... First of all, desired chromosomes are broken into several segments with X-rays, after which they are implanted in rodent cells ... Radiation hybrid mapping (also known as RH mapping) is a technique for mapping mammalian chromosomes. Radiation hybrid mapping ...
This was only the second mammalian genome to be sequenced after humans. The haploid genome is about three billion base pairs ... "Human assembly and gene annotation". Ensembl. Retrieved 29 July 2013. "JAX Mice Database - 002983 MRL.CBAJms-Fas/J". Jaxmice. ... compared to an estimated 20,774 in humans. Various mutant strains of mice have been created by a number of methods. A small ... Kolata, Gina (11 February 2013). "Mice Fall Short as Test Subjects for Some of Humans' Deadly Ills". New York Times. Retrieved ...
In humans, C7orf43 is located in the long arm of human chromosome 7 (7q22.1), and is on the negative (antisense) strand. Genes ... This promoter is 657 base pairs long and is located at position 99756182 to 99756838 in the negative strand of chromosome 7. ... "Human PubMed Reference:". "Mouse PubMed Reference:". "C7orf43 chromosome 7 open reading frame 43 [ Homo sapiens (human) ]". ... C7orf43 (Chromosome 7 Open reading frame 43) is a protein that in human is encoded by the gene C7orf43. C7orf43 has no other ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
It is a Human accelerated region. It is located within a pair of overlapping long non-coding RNA genes, HAR1A (HAR1F) and HAR1B ... The HAR1B gene overlaps HAR1A, and is located on the opposite strand of the chromosome. Its expression in the human brain is ... In molecular biology, Human accelerated region 1 (highly accelerated region 1, HAR1) is a segment of the human genome found on ... Scientists Identify Gene Difference Between Humans and Chimps, Scientific American, 17 August 2006 Page for Human accelerated ...
... is located on chromosome one in the p arm at location 1p36.132. It covers 36.74 kb, from base pairs 19451486 to ... KIAA0090 is a human gene coding for a protein of unknown function. KIAA0090 has two aliases OTTHUMP00000002581 and RP1-43E13.1 ... Gupta R, Brunak S (2002). "Prediction of glycosylation across the human proteome and the correlation to protein function". Pac ... The gene is composed of 37 gt-at introns/alternative introns with 57 exons expressed in 1 unspliced form of 4253 bp and 20 ...
HAR1 is an 106-base pair stretch found on the long arm of chromosome 20 overlapping with part of the RNA genes HAR1F and HAR1R ... There are 18 base pair mutations different between humans and chimpanzees, far more than expected by its history of ... Human accelerated regions (HARs), first described in August 2006, are a set of 49 segments of the human genome that are ... "Comment on "Human-Specific Gain of Function in a Developmental Enhancer"". Science. February 6, 2009. What Makes Us Human?, ...
... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene. This gene encodes a member of the RIEG/PITX ... "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624- ... "Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a ...
For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information ... of the Y chromosome during meiosis. Additionally, 10-25% of human X chromosome genes, and 3-7% of mouse X chromosome genes ... Specifically, platypus X1 shares homology with the chicken Z chromosome, and both share homology with the human chromosome 9. ... smaller W chromosome. Instead of silencing the entire chromosome as humans do, male chickens (the model ZZ organism) seem to ...
... in which both sets of chromosomes were sequenced. In 2010, the Institute determined the 1.08 million base pair Mycoplasma ... Pennisi, E. (1998). "HUMAN GENOME PROJECT:A Planned Boost for Genome Sequencing, but the Plan is in Flux". Science. 281 (5374 ... "The Human Genome Project Race". Center for Biomolecular Science & Engineering, UC Santa Cruz. Retrieved 20 March 2012. Pruitt, ... In June 2000, Venter founded The Center for the Advancement of Genomics (TCAG), a think tank for studying the ethics of human ...
... (Chromosome 20 open reading frame 96) is a protein-coding gene in humans. It codes for an unknown protein known as ... The most prevalent mutations of C20orf96 in humans are M1V, Q6K, T13I, T13S, M94I, S117G, S117T, S117N, L142V, D159N, M215T, ... base pairs 270,863 to 290,778 on the complementary strand. It is a member of the DUF4618 superfamily, with the DUF position ... "C20orf96 chromosome 20 open reading frame 96 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-09 ...
... is located on the minus strand of the first chromosome at 1p36.13. The gene consists of 118,172 base pairs stretching ... Genes CAPZB and LOC105376823 neighbor TMCO4 on chromosome 1. TMCO4 consists of 16 exons. There are twenty mRNA transcript ... Transmembrane and coiled-coil domains 4, TMCO4, is a protein in humans that is encoded by the TMCO4 gene. Currently, its ... The most common variant is X1, which includes all exons and spans the entire 118,172 base pairs. The most common protein ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... Differences in absolute sizes of chromosomes. Chromosomes can vary in absolute size by as much as twenty-fold between genera of ... The normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). Normal ... The karyotype of humans includes only 46 chromosomes.[15][16] The great apes have 48 chromosomes. Human chromosome 2 is now ...
Some types of satellite DNA in humans are: A repeated pattern can be between 1 base pair long (a mononucleotide repeat) to ... "Structure of the major block of alphoid satellite DNA on the human Y chromosome". Journal of Molecular Biology. 195 (3): 457- ... Often the base pair repetition will disrupt proper protein synthesis, leading to diseases such as myotonic dystrophy.[citation ... Most satellite DNA is localized to the telomeric or the centromeric region of the chromosome. The nucleotide sequence of the ...
The human PRNP gene is located on the short (p) arm of chromosome 20 between the end (terminus) of the arm and position 12, ... from base pair 4,615,068 to base pair 4,630,233. PrP is highly conserved through mammals, lending credence to application of ... "Localization of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in ... "Assignment of the human and mouse prion protein genes to homologous chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7358- ...
The Institute was engaged in collaborations to sequence 8 of the 23 human pairs of chromosomes (1, 6, 9, 10, 13, 20, 22, and X ... "International Human Genome Sequencing Consortium Announces "Working Draft" of Human Genome". National Human Genome Research ... Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human genome". Nature. 431 (7011): 931- ... The Institute's research in human genetics focuses on the characterisation of human genetic variation in health and disease. ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... is male with one sex chromosome (X0); with a pair of chromosomes (XX) it is a [[hermaphrodite]]. === ZW sex chromosomes === {{ ... chromosome]] (XX), while males have two distinct sex chromosomes (XY). Some species (including humans) have a gene [[SRY]] on ... Chromosomal determination== === XX/XY sex chromosomes === {{Main,XY sex-determination system}} The XX/XY sex-determination ... For humans: ** [[Sex determination and differentiation (human),Human sex determination and differentiation]] ** [[Sex organ]], ...
... in humans spanning over the last 2 to 15 kilobase pairs of the chromosome. Due to the end-replication problem, telomeres ... Telomeres are the outermost parts of linear chromosomes. They consist of tandemly repeated non-coding short nucleotide ... 2012-01-20, E04, byggnad 6E, Biomedicinhuset, Norrlands universitetssjukhus, Umeå, 09:00 (English) Opponent Penninx, Brenda. VU ...
The pattern of chromosome-specific variations in telomere length in humans shows signs of heritability and is maintained ... Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs. Am J Hum ... The pattern of chromosome-specific variations in telomere length in humans is determined by inherited, telomere-near factors ... Heterogeneity in telomere length of human chromosomes. Hum Mol Genet 1996; 5: 685-91. ...
Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ...
Human heart evolved for endurance. Adaptations in heart structure and function likely enabled endurance and survival in ... reported genome-wide significance on chromosome 2q37 on a combined data set of 440 Mexican-American affected sib pairs (ASPs). ... affected sib pair;. lod,. logarithm of odds;. MLS,. maximum lod score;. MODY,. maturity-onset diabetes of the young;. BMI,. ... Twenty-four primer sets were designed to screen the entire coding region (12 exons) for sequence variation of the HNF-4α gene ...
G-bands of human chromosome 20 in resolution 850 bphs[19] Chr. Arm[20] Band[21] ISCN. start[22] ISCN. stop[22] Basepair. start ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Wikimedia Commons has media related to Human chromosome 20.. *. National Institutes of Health. "Chromosome 20". Genetics Home ... "Human chromosome 20: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.. ...
... n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. Primers flanking the dinucleotide repeat ... Chromosome Mapping. Chromosomes, Human, Pair 20*. DNA, Satellite / genetics*. Diabetes Mellitus, Type 2 / genetics. Female. ... 15966046 - Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,xx/46,x.... 15324076 - ... A highly polymorphic (dC-dA)n.(dG-dT)n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. ...
Bulkiest Human Sequence Packs Medical Arsenal DNA Protein Analysis Of Human Chromosome 6, Counts 166,880,988 Base Pairs, Covers ...
Chromosome Deletion*. Chromosomes, Human, Pair 20 / genetics*. Genitalia, Male / abnormalities*. Heart Defects, Congenital / ... Humans. Infant, Newborn. Male. Monomeric GTP-Binding Proteins / genetics*. Tracheoesophageal Fistula / genetics*, pathology. ... Human small G proteins, ObgH1, and ObgH2, participate in the maintenance of mitochondria and nucleolar architecturesGenes Cells ... One patient had a submicroscopic de novo deletion of chromosome 20q13.33, part of which did not overlap known regions of copy- ...
Chromosome A chromosome is a structure that occurs within cells and that contains the cells genetic material. That genetic ... Humans possess twenty-three pairs including the sex chromosomes. A male has an X and a Y sex chromosome, whereas a female has ... With 46 chromosomes, humans fall well within this average.. The 46 human chromosomes are arranged in 23 pairs. One pair of the ... chromosomes align in pairs. In a normal human karyotype, there are 22 pairs of autosomal chromosomes and two sex chromosomes (X ...
Humans have forty-six chromosomes, or twenty-three pairs. When DNA is replicated before the cell divides, each chromosome has ... The DNA of eukaryotic animals is packaged into chromosomes. Chromosomes come in pairs. Like pairs of shoes, they are almost the ... Humans have 23 chromosome pairs, for a total of 46 chromosomes. Since DNA duplication has already occurred, each of the 46 ... Pairing only occurs in prophase of meiosis I. This pairing brings the same chromosome from the mother and father together in ...
Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
Chromosomes. Genes are found on chromosomes. Every human cell contains 23 pairs of chromosomes. People get their chromosomes ... Females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). ... People get one of each pair of chromosomes from their mother and one of each pair from their father. The chromosomes that form ... CDC twenty four seven. Saving Lives, Protecting People Centers for Disease Control and Prevention. CDC twenty four seven. ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Two surveys have reconstructed the full history of the shrunken male chromosome, which provides regulatory genes that play a ... Humans have 23 pairs of chromosomes, with one member of every pair being inherited from each parent. People with an XX pair ... Before generating eggs and sperm, the 23 pairs of chromosomes line up and each chromosome exchanges chunks of DNA with its ... including the rhesus monkey and humans. The Y chromosome is so hard to decode that many early versions of the human genome ...
Two X chromosomes produce a female, and one X and one Y chromosome produce a male. When a baby is conceived, it receives one X ... chromosome from the mother and either an X or a Y chromosome from the father. ... Gender or sex is determined in humans genetically by one pair of chromosomes out of a total of 23 pairs. ... The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. These chromosomes contain the ...
... the resulting human conceptus has 23 pairs of chromosomes. A pair of sex chromosomes is either XX (genetic female) or XY ( ... Owing to genes on her XX chromosomes, the female fetus produces a protein that soaks up and destroys much of the circulating ... Human mating behavior is more complicated. Like much human of behavior, it is subject to such a high degree of shaping by ... This holds not just for humans, but for other mammals as well. And I mean, of course, on average. So some particular female ...
Humans have forty-six chromosomes, arranged in twenty-three pairs. But human egg and sperm cells only have twenty-three ... For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. But the egg or sperm cells of a ... Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. ... chromosomes. How does this happen?. Paragraphs 4 to 9:. For the complete story with questions: click here for printable. Weekly ...
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes ... paired with an identical gene. .. • Human development. - the scientific study of the changes that occur in people as they age ... Chromosome. - tightly wound strand of genetic material. or DNA.. • Chromosome disorders include. Down syndrome (3 copies of ... one normal X chromosome is present in a females cells and the other sex chromosome is missing or structurally altered). , ...
Sex chromosomes X and Y are the 23rd pair in humans. There are two Xs in females but only a single X in males, whereas the ... such as XX male syndrome and maybe XY female type gonadal dysgenesis). Interleukin-9 receptor (IL9R) gene is located at Xq28 ... Chromosomes differ in their sizes. The smallest human chromosome is chromosome 21 (50 Mb) and the largest one is chromosome 1 ( ... Despite morphological dissimilarity, human sex chromosomes pair also in male meiosis and a single obligatory recombination ...
Most living cells have a defined number of chromosomes: Human cells, for example, have 23 pairs. As cells divide, they can make ... Before an egg becomes fertilized, sets of chromosomes must pair up to pass along genetic information. This happens within each ... Animals and established cell lines are limited in their ability to mimic human disease, and results dont always translate to ... A DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk ...
A typical humans DNA is contained in 23 pairs of chromosomes. The twenty-third chromosomal pair determines whether your body ... A Y chromosome is a fraction of the size of an X -- its the smallest of all the chromosomes in the human body. Its shape ... cells ahve one X chromosome and one Y chromosome. You can read more about these chromosomes and how they determine a persons ... Scientists also believed that the Y chromosome was shrinking and would disappear from human cells in the next 5 million years. ...
Genes are coiled into CHROMOSOMES. Humans typically have 46 chromosomes. Twenty-three chromosomes come from the mother, and 23 ... Women and girls generally do not show an X-linked condition because their paired gene on the other X chromosome is able to ... Females have two X chromosomes, and males have an X and a Y chromosome. ... As long as one gene of the pair is functioning, the parent has no idea that the non-working gene is present. The childs ...
The following is a partial list of genes on human chromosome 20. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 20. Because researchers use different approaches to ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome". Genet Test. 1 (3): 225-229. doi:10.1089/ ... 2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-871. doi:10.1038/414865a. ...
... chromosome, copy number variation (CNV), DNA, DNA methylation, DNA mutation, dominant, epigenetics, gene, gene expression. ... There are 22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, which can be XX or XY. Each pair ... A chromosome contains a single, long piece of DNA with many different genes. Every human cell contains 23 pairs of chromosomes ... CDC twenty four seven. Saving Lives, Protecting People Centers for Disease Control and Prevention. CDC twenty four seven. ...
  • A number of epidemiologic studies have shown that short telomere length in peripheral blood leucocytes is associated with increased cancer risks ( 13-20 ). (aacrjournals.org)
  • Human Molecular Genetics. (wikipedia.org)
  • Dominance in genetics is a relationship between different forms ( alleles ) of a gene at a particular physical location ( locus ) on a chromosome . (thefullwiki.org)
  • These chromosomes determine individual genetics traits as well as a person's gender. (reference.com)
  • 1076 words - 5 pages Technology and science have always worked in tandem towards mankind's intellectual pursuit of the natural world, in particular being the research of the composition and anomalies of the genetics of all living things through genetic engineering, particularly human beings, whose intricate complexities both intrigue and frighten humanity itself with new discoveries constantly. (brightkite.com)
  • David King, campaigner on behalf of the group Human Genetics Alert, said: "Once you cross the ethical line, it is very hard not to take the next step of designer babies. (studentnewspaper.org)
  • Researchers from a consortium of 14 institutions, including the National Human Genome Research Institute (NHGRI), Johns Hopkins Medical Institutes and the Cleveland Clinic, reported for the first time in the February 2002 issue of Nature Genetics that they have identified a gene on chromosome 1 that shows an association with an inherited form of prostate cancer in some families. (genome.gov)
  • Human genetics is the study of inheritance as it occurs in human beings. (euvolution.com)
  • Study of human genetics can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. (euvolution.com)
  • At the end of anaphase, there is one complete set of chromosomes on each side of the cell and the sets are identical. (encyclopedia.com)
  • Nonparametric analysis of chromosome 20 inheritance data collected with the MODYl-linked marker D20S197 provides evidence forlinkage to NIDDM with a P value of 0.005 in Caucasian sib pairs using affected sibpair (ASP) analyses. (diabetesjournals.org)
  • Nonparametric analysis of chromosome 12 inheritance data collected with the MODY3-linked markers D12S349 and D12S86 provides evidence for linkage to NIDDM with P values of 0.04 and 0.006, respectively, in Caucasian sib pairs using similar analyses. (diabetesjournals.org)
  • Androgen insensitivity syndrome is inherited by a defect in the androgen receptor gene on the X chromosome,and the inheritance is therefore described as "X-linked recessive. (chw.org)
  • Uniparental disomy is the inheritance of two homologous chromosomes from one parent. (thefullwiki.org)
  • Inheritance of traits for humans are based upon Gregor Mendel's model of inheritance. (euvolution.com)
  • Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. (euvolution.com)
  • Together with results from previous studies, our findings support the evidence for more than one diabetes-predisposing gene on chromosome 20. (pnas.org)
  • The researchers reported an association between changes in a gene on chromosome 1 called ribonuclease L, or RNASEL, and an increased risk of developing prostate cancer in men from some families with a history of the disease. (genome.gov)
  • Klinefelter s Syndrome occurs as the result of an error during the formation of an egg or a sperm that results in a person having a XXY combination or 47 chromosomes instead of the normal 46. (medindia.net)
  • This error usually occurs when the chromosomes are distributed during the division of the egg or the sperm. (medindia.net)
  • Scientists are not sure what other factors increase the risk as the error that produces the extra chromosome occurs at random. (medindia.net)
  • De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. (biomedsearch.com)
  • CASE REPORT: We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. (biomedsearch.com)
  • An example of a deletion syndrome is the Cri du Chat syndrome in which a portion of chromosome 5 is deleted. (chw.org)
  • If a man with a Y chromosome deletion has a male child through ICSI, then the child will also have this same type of problem. (malereproduction.com)
  • In starting with the basics, all human beings, with the exception of those who have abnormal genetic conditions, have exactly 23 pairs of chromosomes. (courierpress.com)
  • If we as human beings aren't careful with what we do we are capable of mass genocide. (sciforums.com)
  • Among human beings the phenomenon of sex determination is the province of a special pair of chromosomes called the sex chromosomes. (brighthub.com)
  • As we know Homo sapiens or human beings are made from the information encoded in their genetic map which is written with DNA. (brighthub.com)
  • The Y chromosome has been sequenced and has provided valuable insights into sex determination and the evolution of human beings as a whole. (brighthub.com)
  • It is an instruction manual that enables human beings to carry out all of the necessary life processes. (patc.com)
  • With the exception of identical twins, no two human beings will have the exact same DNA content. (patc.com)
  • RODENTS and people may not appear to be closely related, but consider this the next time you look in a mirror: the genes of human beings and mice are 85 percent identical. (llnl.gov)
  • There is new reason to respect the diminutive male Y chromosome. (nytimes.com)
  • Y-chromosome DNA testing is especially helpful because the male Y-chromosome is handed down, father to son, unchanged through the generations, except for rare mutations which, in themselves, can be helpful indicators of branching. (familytreedna.com)
  • The potential contribution of maturity-onset diabetes of the young (MODY) genes to NIDDM susceptibility in African-American and Caucasian NIDDM-affected sibling pairs with a history of adult-onset diabetic nephropathy has been evaluated. (diabetesjournals.org)
  • Tabulation of allele sharing in affected sib pairs with D20S197 and D12S349 suggests that affected sibling pairs may inherit susceptibility genes simultaneously from chromosome 20 and chromosome 12. (diabetesjournals.org)
  • We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. (pnas.org)
  • Evidence from this and other studies suggests at least two diabetes-susceptibility genes on chromosome 20. (pnas.org)
  • The most studied type is single nucleotide polymorphisms or SNPs, which are thought to be the essential variants implicated in human traits and disease susceptibility. (jcvi.org)
  • Some conditions result when there is a change in a gene located on the X chromosome (X-linked recessive). (boystownhospital.org)
  • Men cannot be carriers for recessive X linked traits, as they only have one X chromosome, so any X linked trait inherited from the mother will show up. (euvolution.com)