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.

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (1/817)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified, and most of their families originated in the Charlevoix-Saguenay region of northeastern Quebec, where the carrier prevalence has been estimated to be 1/22. Consistent with the hypothesis of a founder effect, we observed excess shared homozygosity at 13q11, among patients in a genomewide scan of 12 families. Analysis of 19 pedigrees demonstrated very tight linkage between the ARSACS locus and an intragenic polymorphism of the gamma-sarcoglycan (SGCG) gene, but genomic DNA sequence analysis of all eight exons of SGCG revealed no disease-causing mutation. On the basis of haplotypes composed of seven marker loci that spanned 11.1 cM, the most likely position of the ARSACS locus was 0.42 cM distal to the SGCG polymorphism. Two groups of ARSACS-associated haplotypes were identified: a large group that carries a common SGCG allele and a small group that carries a rare SGCG allele. The haplotype groups do not appear to be closely related. Therefore, although chromosomes within each haplotype group may harbor a single ARSACS mutation identical by descent, the two mutations could have independent origins.  (+info)

Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. (2/817)

Loss of heterozygosity at tumor-suppressor loci is an important oncogenic mechanism first discovered in retinoblastomas. We explored this phenomenon by examining a set of matched retinoblastoma and leukocyte DNA samples from 158 patients informative for DNA polymorphisms. Loss of heterozygosity at the retinoblastoma locus (13q14) was observed in 101 cases, comprising 7 cases with a somatic deletion causing hemizygosity and 94 with homozygosity (isodisomy). Homozygosity was approximately equally frequent in tumors from male and female patients, among patients with a germ-line vs. somatic initial mutation, and among patients in whom the initial mutation occurred on the maternal vs. paternal allele. A set of 75 tumors exhibiting homozygosity was investigated with markers distributed in the interval 13cen-13q14. Forty-one tumors developed homozygosity at all informative marker loci, suggesting that homozygosity occurred through chromosomal nondisjunction. The remaining cases exhibited mitotic recombination. There was no statistically significant bias in apparent nondisjunction vs. mitotic recombination among male vs. female patients or among patients with germ-line vs. somatic initial mutations. We compared the positions of somatic recombination events in the analyzed interval with a previously reported meiotic recombination map. Although mitotic crossovers occurred throughout the assayed interval, they were more likely to occur proximally than a comparable number of meiotic crossovers. Finally, we observed four triple-crossover cases, suggesting negative interference for mitotic recombination, the opposite of what is usually observed for meiotic recombination.  (+info)

Exclusion of insulin receptor substrate 2 (IRS-2) as a major locus for early-onset autosomal dominant type 2 diabetes. (3/817)

We investigated whether variability at the insulin receptor substrate (IRS)-2 locus plays a role in the etiology of early-onset autosomal dominant type 2 diabetes. By means of radiation hybrid mapping, we placed the human IRS-2 gene on 13q at 8.6 cRays from SHGC-37358. Linkage between diabetes and two polymorphic markers located in this region (D13S285 and D13S1295) was then evaluated in 29 families with early-onset autosomal dominant type 2 diabetes. Included were 220 individuals with diabetes, impaired glucose tolerance, or gestational diabetes (mean age at diabetes diagnosis 36 +/- 17 years) and 146 nondiabetic subjects. Overall, strongly negative logarithm of odds (LOD) scores for linkage with diabetes were obtained by multipoint parametric analysis (LOD score -45.4 at D13S285 and -40.9 at D13S1295). No significant evidence of linkage was obtained under the hypothesis of heterogeneity or by nonparametric methods. Fourteen pedigrees for which linkage could not be excluded (LOD score > -2.0) were screened for mutations in the IRS-2 coding region by dideoxy fingerprinting. However, no mutations segregating with diabetes could be detected in these families. These data indicate that IRS-2 is not a major gene for early-onset autosomal dominant type 2 diabetes, although a role of mutations in the promoter region cannot be excluded at this time.  (+info)

CD5 positive breast carcinoma in a patient with untreated chronic lymphocytic leukaemia: molecular studies of chromosome 13q. (4/817)

A 67 year old woman presented with a right breast lump which proved to be a grade 2 invasive ductal carcinoma with axillary lymph node metastasis. She had a five year history of CD5 positive chronic lymphocytic leukaemia, which never required treatment. Immunoperoxidase stains for CD5, using the monoclonal antibody NCL-CD-54C7, showed that there was extensive infiltration of axillary lymph nodes with CD5 positive B lymphocytes. Strong staining for CD5 was also seen in the carcinoma cells within the breast and lymph node metastases. It has recently been suggested that there is a tumour suppresser locus in chronic lymphocytic leukaemia at 13q12.3 near or at the BRCA2 locus. Deletion of regions on chromosome 13q containing the BRCA2 and RB1 genes has also been reported in sporadic breast cancers. These observations suggest that there may be a link between these two diseases acting through chromosome 13, but amplification of several microsatellite repeat markers failed to show any loss of heterozygosity or repeat instability at either these or several other loci on chromosome 13. Examination of additional such cases is needed to perform a more comprehensive study of the significance of positive CD5 staining of breast carcinoma.  (+info)

Asynchronous replication of alleles in genomes carrying an extra autosome. (5/817)

Transcriptional activity of genes appears to be highly related to their replication timing; alleles showing the common biallelic mode of expression replicate highly synchronously, whereas those with a monoallelic mode of expression replicate asynchronously. Here we used FISH to determine the level of synchronisation in replication timing of alleles in amniotic fluid cells derived from normal foetuses and from those with either of the trisomies for autosomes 21, 18 or 13, or for sex chromosomes (47,XXX and 47,XXY). Two pairs of alleles, not associated with the extra chromosome, were studied in subjects with each trisomy and three in normal subjects. In cells derived from normal foetuses and from foetuses with sex chromosome trisomies, each pair of alleles replicated synchronously; yet these very same alleles replicated asynchronously in cells derived from foetuses with trisomy for any of the three autosomes studied. The results suggest that the gross phenotypic abnormalities associated with an extra autosome are brought about not only by over-expression of genes present in three doses, but also by modifications in the expression of genes present in the normal two doses.  (+info)

Chromosome 13q deletion mapping in pituitary tumors: infrequent loss of the retinoblastoma susceptibility gene (RB1) locus despite loss of RB1 protein product in somatotrophinomas. (6/817)

Two recent studies have described allelic loss of an RB1 intragenic marker on chromosome 13q in aggressive and metastatic pituitary tumors that did not correlate with loss of pRB. The second report also showed that losses were more frequently associated with a more centromeric marker. Because both of these studies suggest the presence of another or other tumor suppressor genes (TSGs) on 13q, we carried out an allelotype analysis encompassing known and recently described TSG loci on 13q, together with immunohistochemical analysis of pRB. We analyzed 82 nonfunctional tumors and 53 somatotrophinomas subdivided into invasive and noninvasive cohorts. A significantly higher frequency of loss, at one or more of 13 markers, was evident in the invasive nonfunctional tumors (54%, 26 of 48) than in their noninvasive counterparts (29%, 10 of 34). An approximately equal frequency of loss was apparent in invasive (28%, 5 of 18) and noninvasive (31%, 11 of 35) somatotrophinomas at one or more markers. In those tumors harboring deletion, loss at two or more markers was more frequent in invasive nonfunctional tumors 65% (17 of 26) compared with 36% (4 of 11) of their noninvasive counterparts. In somatotrophinomas, 40% (2 of 5) of invasive tumors as compared with 64% (7 of 11) of noninvasive tumors had evidence of two or more deletions. In tumors showing loss at two or more loci, the majority showed large deletions; however, loss of the RB1 intragenic marker D13S153 was infrequent. In most cases, loss at individual markers was more frequent in invasive tumors than their noninvasive counterparts. A marker 3 cM telomeric to RB1 (D13S1319) showed the highest frequency of deletion in both invasive cohorts (29% of somatotrophinomas and 24% of nonfunctional tumors). Immunohistochemical analysis of pRB showed frequent loss in somatotrophinomas (27%, 9 of 33) in comparison with 4% (2 of 53) of non-functional tumors. Although loss of pRB did not correlate with loss of an intragenic marker or tumor grade, it was significantly associated with the somatotrophinoma subtype (P = 0.002). These data suggest that chromosome 13q is a frequent target for allelic deletion in pituitary tumors and point to another or other TSG loci in these regions.  (+info)

Connexin46 mutations in autosomal dominant congenital cataract. (7/817)

Loci for autosomal dominant "zonular pulverulent" cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3). Here we report genetic refinement of the CZP3 locus and identify underlying mutations in the gene for gap-junction protein alpha-3 (GJA3), or connexin46 (Cx46). Linkage analysis gave a significantly positive two-point LOD score (Z) at marker D13S175 (maximum Z [Zmax]=>7.0; maximum recombination frequency [thetamax] =0). Haplotyping indicated that CZP3 probably lies in the genetic interval D13S1236-D13S175-D13S1316-cen-13pter, close to GJA3. Sequencing of a genomic clone isolated from the CZP3 candidate region identified an open reading frame coding for a protein of 435 amino acids (47,435 D) that shared approximately 88% homology with rat Cx46. Mutation analysis of GJA3 in two families with CZP3 detected distinct sequence changes that were not present in a panel of 105 normal, unrelated individuals. In family B, an A-->G transition resulted in an asparagine-to-serine substitution at codon 63 (N63S) and introduced a novel MwoI restriction site. In family E, insertion of a C at nucleotide 1137 (1137insC) introduced a novel BstXI site, causing a frameshift at codon 380. Restriction analysis confirmed that the novel MwoI and BstXI sites cosegregated with the disease in families B and E, respectively. This study identifies GJA3 as the sixth member of the connexin gene family to be implicated in human disease, and it highlights the physiological importance of gap-junction communication in the development of a transparent eye lens.  (+info)

Lymphatic vessel hypoplasia in fetuses with Turner syndrome. (8/817)

Turner syndrome is associated with subcutaneous accumulation of fluid in the neck region that can be visualized sonographically from 10-14 weeks of gestation as massively increased nuchal translucency thickness. Possible mechanisms for this increased translucency include dilatation of the jugular lymphatic sacs because of developmental delay in the connection with the venous system, or a primary abnormal dilatation or proliferation of the lymphatic channels interfering with a normal flow between the lymphatic and venous systems. The aim of this study was to investigate the distribution of lymphatic vessels in nuchal skin tissue from fetuses with Turner syndrome compared with fetuses carrying trisomies 21, 18 and 13 and chromosomally normal controls. The distribution of vessels was examined by immunohistochemistry using a monoclonal antibody, PTN63, against 5' nucleotidase and an anti-laminin antibody. In normal control fetuses (n = 6) and those with trisomies 21 (n = 3), 18 (n = 2) and 13 (n = 2), PTN63-positive and laminin-positive vessels were evenly distributed throughout the dermis and subcutis. In Turner syndrome (n = 3), there was a chain of large vessels that stained with both PTN63 and laminin at the border between dermis and subcutis, but there was scarcity of vessels in the upper dermis and the subcutis. Using PTN63 alone, there were no positive vessels in the upper dermis. We conclude that in Turner syndrome lymphatic vessels in the upper dermis are hypoplastic.  (+info)

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Definition of robertsonian translocation in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is robertsonian translocation? Meaning of robertsonian translocation as a legal term. What does robertsonian translocation mean in law?
A Robertsonian translocation is a chromosomal abnormality that generally doesnt cause health problems. However, it can affect pregnancy, especially when it results in a fetus with a genetic condition that is incompatible with life. Well tell you what you can do if you have or suspect you have this translocation.
Complete information for KCNRG gene (Protein Coding), Potassium Channel Regulator, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
Hi there, I am researching chromosome 2 fusion theory. The theory that chromosome 2 and 3 was fused by a Robertsonian Translocation in two human-chimp common ancestors which mated giving us our chromosome 2 and 46 chromosomes instead of the other higher primates 48.. I was attempting to understand what the odds of this occurring were, to which end I want to know the odds that a chimp baby will be born with this mutation. I understand that 1 in 1000 human babies are born with a Robertsonian Translocation, is it the same for chimps?. ...
TY - JOUR. T1 - Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. AU - Stetten, G.. AU - Tuck-Muller, C. M.. AU - Blakemore, Karin. AU - Wong, C.. AU - Kazazian, Haig. AU - Antonarakis, S. E.. PY - 1990. Y1 - 1990. UR - http://www.scopus.com/inward/record.url?scp=0025670533&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0025670533&partnerID=8YFLogxK. M3 - Article. C2 - 2077349. AN - SCOPUS:0025670533. VL - 7. SP - 479. EP - 484. JO - Molecular Biology and Medicine. JF - Molecular Biology and Medicine. SN - 0735-1313. IS - 6. ER - ...
Looking for online definition of Robertsonian in the Medical Dictionary? Robertsonian explanation free. What is Robertsonian? Meaning of Robertsonian medical term. What does Robertsonian mean?
Looking for online definition of trisomies in the Medical Dictionary? trisomies explanation free. What is trisomies? Meaning of trisomies medical term. What does trisomies mean?
Translocation is the exchange of chromosome segments, usually between nonhomologous chromosomes. There are two primary types of translocations: reciprocal translocations and Robertsonian translocations. A reciprocal translocation occurs when segments from nonhomologous chromosomes break off, with segment attaching to the other chromosome and vice-versa. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with tiny short arms, meaning the centromere is near one end) fuse at the centromere and lose their short arms.. Reciprocal translocations usually involve only two chromosomes, meaning the total chromosome number is unchanged. Reciprocal translocation are typically harmless, despite being more common in individuals so retarded that they require institutional care. There are three kinds of reciprocal translocation: alternate; adjacent-1; and adjacent-2.. Robertsonian translocations lead to a balanced karyotype with only 45 chromosomes. Because acrocentric short arms ...
Robertsonian translocation: Two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material ...
3q deletion information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Use Bio-Rads PrimePCR assays, controls, templates for your target gene. Every primer pair is optimized, experimentally validated, and performance guaranteed.
A Robertsonian translocation 45,XY, t(13q; 14q) was detected in the leukocyte cultures of a phenotypically normal male. Silver staining technique for nucleolus organizer regions revealed that both acrocentrics involved in the translocation had lost their nucleolus organizers.
Images Alveolar rhabdomyosarcoma. https://twitter.com/histiocytosisX/status/699599913013923840 https://twitter.com/seattlequinns/status/85520214
The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers and educators in the field of genetics. Our members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level.. Online ISSN: 1943-2631. ...
Since publication of the classic descriptions by Riopelle and ThÉRiault (1956) and Enzinger and Shiraki (1969) the morphology of alveolar rhabdomyosarcoma (aRMS) has been well known. RMS presenting with clear and unequivocal (pseudo)alveolar spaces can be recognized at first sight as the alveolar (sub-)type of RMS. On the other hand, a diagnosis of aRMS may be difficult in cases which display neither significant evidence of rhabdomyogenesis in conventionally stained slides nor unambiguous alveolar spaces. In such cases the diagnosis of RMS must be confirmed by special staining including immunohistochemistry. ...
Trisomy 18 and 13 What are trisomies? The term trisomy is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 chromosomes, rather than the usual pair, the baby would be said to have trisomy 21. Trisomy 21 is also known as Down syndrome. Other examples of trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) pr...
Edwards syndrome, Patau syndrome, and other genetic disorders are trisomies, just like Down syndrome. Learn more about these lesser-known disorders.
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Article printed from WND: http://www.wnd.com URL to article: http://www.wnd.com/wnd_video/i-torpedoed-newt/ Click here to print. © Copyright 1997-2013. All Rights Reserved. WND.com. ...
Introduction: Rhabdomyosarcoma is an uncommon tumor seen in young adolescents and adults that metastasizes to the peritoneum. Case Report: Here we report a case of 18-year-old female who had alveolar rhabdomyosarcoma of nose and was treated with chemoradiotherapy. After one year, she presented with ascites. Ascitic fluid cytology revealed deposits of rhabdomyosarcoma. Immunohistochemistry done to support the diagnosis. This case report highlights the cytological features of rhabdomyosarcoma cells, which were large pleomorphic with high nuclear cytoplasmic ratio, coarse chromatin and scant cytoplasm. A small population of cells was almost the size of mesothelial cells, which could be mistaken for a reactive mesothelial cells. Conclusion: Awareness of rare metastases of rhabdomyosarcoma in peritoneum and recognition of the cytological features of these malignant cells supported by specific immunostains helps in the diagnosis.
The gene PADPRP codes for a nuclear enzyme Poly (ADP-ribose) polymerase. This enzyme is a DNA binding protein that modulates chromatin structure adjacent to DNA strand breaks (Smulson and Sugimura...
Case report:. A 31-year-old female patient with the following gynecological and obstetrical history: gestations: 7, abortions 6, births 0, cesareans 1, children alive 1, children dead 0. Pregnancy 1: 12-year-old daughter, with no dysmorphia, from the second gestation 11 years ago to the seventh gestation occurred this year, have ended in spontaneous abortions before the first 12 weeks of gestation. With a cytogenetic study that reports Robertsonian translocation, 45, XX, t (13/15). ...
Alternative splicing was the first phenomenon scientists discovered that made them realize that genomic complexity cannot be judged by the number of protein-coding genes. During alternative splicing, which occurs after transcription and before translation, introns are removed and exons are spliced together to make an mRNA molecule. However, the exons are not necessarily all spliced back together in the same way. Thus, a single gene, or transcription unit, can code for multiple proteins or other gene products, depending on how the exons are spliced back together. In fact, scientists have estimated that there may be as many as 500,000 or more different human proteins, all coded by a mere 20,000 protein-coding genes. ...
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MGUS - MedHelps MGUS Center for Information, Symptoms, Resources, Treatments and Tools for MGUS. Find MGUS information, treatments for MGUS and MGUS symptoms.
If you have a family member with Distal Trisomy 10q, we invite you to share in our community. Reasons to join are: To share your childs stories
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Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. Especially the alveolar rhabdomyosarcoma (ARMS) shows poor prognosis when metastases have developed. [...]
Researchers at Oregon Health & Science University Doernbecher Childrens Hospital have identified a promising new approach to overcoming drug resistance in children with an extremely aggressive childhood muscle cancer known as alveolar rhabdomyosarcoma. Their findings are published online this week in the journal Molecular Cancer Therapeutics and will be featured on the cover of the journals print edition next month.. Rhabdomyosarcoma accounts for more than 50 percent of all soft-tissue cancers in children. Even after extensive therapy, the survival rate among alveolar rhabdomyosarcoma patients with advanced disease is less than 20 percent. Dismal outcomes such as these are what keep researchers in the Pediatric Cancer Biology Program at OHSU Doernbecher working around the clock toward a breakthrough.. "Despite our best efforts, outcomes for metastatic alveolar rhabdomyosarcoma have not improved for decades. Thats why our findings are significant. Our clinical partners now have a new method of ...
It is believed that some rhabdomyosarcoma tumors begin developing in the fetus. Rhabdomyoblasts are the cells at the initial stages of development of an unborn baby. These cells will mature and develop into muscles. There has been much research into the gene structure of these rhabdomyoblasts and possible detection of a gene error that can produce the disease later in development.. Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. In children with an embryonal rhabdomyosarcoma, there is usually an abnormality of chromosome 11. In alveolar rhabdomyosarcoma, a rearrangement in the chromosome material between chromosomes 2 and 13 is usually present. This rearrangement changes the position and function of genes, causing a fusion of genes referred to as a fusion transcript. Patients have an abnormal fusion transcript involving two genes known as PAX3 and FKHR. This important discovery has led to improvements in ...
In 1974, Segal and McCoy reported that primary foreskin fibroblasts of trisomy 21 patients proliferate more slowly than euploid control cells ( 6). Similar results were obtained from studies of primary mouse cells ( 7) or human cell lines ( 8) with decreased chromosome segregation fidelity. We set out to characterize the effects of a single extra chromosome on cell growth and proliferation in a systematic manner. This approach not only enabled us to determine whether every chromosome when present in an extra copy interferes with proliferation, but also allowed us to determine whether a general response to aneuploidy exists.. We established MEFs trisomic for either chromosome 1, 13, 16, or 19 using mice with balanced Robertsonian translocations. Analysis of the cell lines established from these aneuploid embryos revealed that cell proliferation was hampered in all trisomic MEFs compared with euploid controls. Furthermore, the characterization of the trisomic MEFs revealed a number of shared ...
Screening Tests in Pregnancy - Screening for Trisomies Downs Syndrome, Pataus Syndrome and Edwards Syndrome. Combined Screening, Quadruple Test and Non Invasive Prenatal Testing (NIPT) These syndromes are also called trisomies. We have 23 pairs of chromosomes as humans. The above syndromes ari
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
Is there a correlation between trisomy 18 and autism - Is there a correlation between trisomy 18 and autism? Not really. Trisomy 18 is a severe syndrome that significantly affects the brain and its development. A child with autistic like behaviors who has trisomy 18, is a trisomy-18 patient, not an autism patient.
Description: B-Cell Chronic Lymphocytic Leukemia - Pipeline Review, H1 2017, provides an overview of the B-Cell Chronic Lymphocytic Leukemia (Infectious Di
trisomy 18 is the second most common type of trisomy syndrome, after trisomy 21 (down syndrome). about one in every 5,000 babies is born with trisomy 18, and most are female.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
The most common chromosomal abnormalities are trisomies - 3 copies of one of the chromosomes. The most common of these is trisomy 21, or Down syndrome.
The term translocation is used when the location of specific chromosome material changes. There are two main types of translocations: reciprocal and Robertsonian
This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.. *v ... paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7] ... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624- ...
... is a gene found on the 21st chromosome at 21q22.1. A total of thirteen splice variants have been found, but only ... The most common form of C21orf59 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are ... 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins ... "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC ...
In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the highest quality isoform, forming an ... mRNA of 2797 base pairs. Three other isoforms have been isolated. Homologs exist as distant as the green sea turtle and ... The human C12orf40 protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric ... Kenta Nakai, Human Genome Center, Institute for Medical Science, University of Tokyo, Japan.[2] Edgar, R. (1 January 2002). " ...
... is a human gene that encodes a protein known as KIAA0895 protein or hypothetical protein LOC23366. Other known aliases ... The genomic DNA is 65,976 [base pair]s long, while the longest mRNA that it produces is 4463 bases long. KIAA0895 is surrounded ... The KIAA0895 gene is located at p14.2 on chromosome 7. It can be transcribed into 15 transcript variants, which in turn can ... KIAA0895 has one paralog in humans known as KIAA0895L. Orthologs have been found in all mammals, and eukaryotes through T. ...
"Human PubMed Reference:". "GeneCards". Human Gene Database. "BioCompare". BioCompare. "Ensembl". Ensembl. "GeneCards". Human ... It spans from 39,009,865 base pairs from the pter to 39,038,095 bp from the pter, with a size of 28,231 bases. PROSER1 has a ... Genes STOML3 and NHLRC3 neighbor PROSER1 on chromosome 13. Expressed Sequence Tag mapping of PROSER1 expression shows that it ... According to the Human Protein Atlas, PROSER1 has general cytoplasmic expression and is expressed in all RNA tissue categories ...
In humans, Robertsonian translocations generally occur in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22. ... or non-homologous chromosomes (i.e. two different chromosomes, not belonging to a homologous pair). A feature of chromosomes ... This type of translocation is cytologically visible, and can reduce chromosome number (from 23 to 22 pairs, in humans) if the ... In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the ...
The isoelectric point of EFHC2 is estimated to be 7.13 in humans. Relative to other proteins expressed in humans, EFHC2 has ... The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime ... EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is also one of a few, select number ... A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the ...
2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... "A novel divergently transcribed human histone H2A/H2B gene pair". DNA Seq. 1 (6): 409-13. doi:10.3109/10425179109020799. PMID ... Histone H2B type 1-O is a protein that in humans is encoded by the HIST1H2BO gene. Histones are basic nuclear proteins that are ... 2006). "Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation". Mol. Cell. 20 (4 ...
2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... "A novel divergently transcribed human histone H2A/H2B gene pair". DNA Seq. 1 (6): 409-13. doi:10.3109/10425179109020799. PMID ... 1999). "The human H2A and H2B histone gene complement". Biol. Chem. 380 (1): 7-18. doi:10.1515/BC.1999.002. PMID 10064132. Deng ... Histone H2A type 1 is a protein that in humans is encoded by the HIST1H2AM gene. Histones are basic nuclear proteins that are ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
The NDUFA13 gene is located on the p arm of chromosome 19 in position 13.2 and spans 11,995 base pairs. The gene produces a 17 ... The human NDUFA13 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... Chidambaram NV, Angell JE, Ling W, Hofmann ER, Kalvakolanu DV (2000). "Chromosomal localization of human GRIM-19, a novel IFN- ... Ton C, Hwang DM, Dempsey AA, Liew CC (Jan 1998). "Identification and primary structure of five human NADH-ubiquinone ...
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... The human nucleotide diversity is estimated to be 0.1% to 0.4% of base pairs. A difference of 1 in 1,000 amounts to ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... No two humans are genetically identical. On average, in DNA sequence, each human is 99.5% similar to any other human. Even ...
The gene spans 142,366 base pairs and is located at the 10p12.2 locus on the minus (-) or sense strand of chromosome 10. It is ... "C10orf67 chromosome 10 open reading frame 67 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-30 ... Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human ... "Homo sapiens chromosome 10 open reading frame 67 (C10orf67), mRNA". www.ncbi.nlm.nih.gov. Retrieved 2017-02-05. Database, ...
Sterility in a non-polyploid hybrid is often a result of chromosome number; if parents are of differing chromosome pair number ... Human influence[edit]. Anthropogenic hybridization[edit]. Hybridization is greatly influenced by human impact on the ... For example, donkeys have 62 chromosomes, horses have 64 chromosomes, and mules or hinnies have 63 chromosomes. Mules, hinnies ... In humans[edit]. Main article: Interbreeding between archaic and modern humans. There is evidence of hybridisation between ...
The COX5A gene, located on the q arm of chromosome 15 in position 24.1, is made up of 5 exons and is 17,880 base pairs in ... Cytochrome c oxidase subunit 5a is a protein that in humans is encoded by the COX5A gene. Cytochrome c oxidase 5A is a subunit ... Human COX5A genome location and COX5A gene details page in the UCSC Genome Browser. Mass spectrometry characterization of COX5A ... Rizzuto R, Nakase H, Zeviani M, DiMauro S, Schon EA (Sep 1988). "Subunit Va of human and bovine cytochrome c oxidase is highly ...
The CCDC47 gene itself is located on the minus strand of human chromosome 17 and contains 13 exon splice sites and 14 distinct ... In regards to the mRNA, translation begins at base pair 337 and ends at 1728. There is a strong stem loop located in the 5' UTR ... Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the ... Percent identity of human CCDC47 to a specific ortholog declines with increasing years of divergence, as expected. Homologous ...
The ssDNA complexed with DMC1 can pair with homologous ssDNA from another chromosome during the synopsis stage of meiosis to ... BRCA2 is a human tumor suppressor gene (specifically, a caretaker gene), found in all humans; its protein, also called by the ... The human reference BRCA 2 gene contains 27 exons, and the cDNA has 10,254 base pairs coding for a protein of 3418 amino acids ... In mice and humans, BRCA2 primarily mediates orderly assembly of RAD51 on single-stranded (ss) DNA, the form that is active for ...
It is 14100 base pairs of DNA in length, and contains nine exons, the corresponding mRNA is 2786 base pairs in length (the ... they present lower levels of 7-DHC and 8-DHC than are seen in humans. This can be explained by the fact that humans experience ... Given that SLOS is an autosomal recessive disorder, mutations in DHCR7 on both copies of chromosome 11 are necessary to have ... The human version of this enzyme is predicted to have a molecular weight of 54,489 kDa, and an isoelectric point of 9.05. The ...
... including 22 homologous chromosome pairs and a pair of sex chromosomes. The mitochondrial genome is a circular DNA molecule ... In humans the nuclear genome is divided into 46 linear DNA molecules called chromosomes, ... The DNA of a prokaryotic cell consists of a single chromosome that is in direct contact with the cytoplasm. The nuclear region ... It houses the cell's chromosomes, and is the place where almost all DNA replication and RNA synthesis (transcription) occur. ...
... from base pair 23,133,488 to base pair 23,235,220. Mutations within the UBE3A gene are responsible for some cases of Angelman ... Lu Z, Hu X, Li Y, Zheng L, Zhou Y, Jiang H, Ning T, Basang Z, Zhang C, Ke Y (August 2004). "Human papillomavirus 16 E6 ... Other abnormalities in this region of chromosome 15 can also cause Angelman syndrome. These chromosomal changes include ... Anan T, Nagata Y, Koga H, Honda Y, Yabuki N, Miyamoto C, Kuwano A, Matsuda I, Endo F, Saya H, Nakao M (November 1998). "Human ...
It is located on the human chromosome 4 at 4q35.1. The function of the protein encoded by this gene is not well understood, but ... The total span of the gene, including 5' and 3' UTR, is 3149 base pairs. The gene is flanked on the left by NUDT13 (nudix ... Overall in the human body, this gene is expressed at levels slightly below the average human gene expression level. The protein ... A Systematic Exploration of the Human Interactome. Cell, 162(2), 425-440. doi:10.1016/j.cell.2015.06.043 "ABHD8_HUMAN". UniProt ...
... that of the human genome, although the number of chromosomes (22) is comparable to that of humans (23). This makes it ... It remains among the smallest known vertebrate genomes; its number of base pairs is ~6% and the number of previously known ... Current estimates show a total of 392,376,244 base pairs, 1,138 known and 18,093 novel protein-coding genes, and 593 RNA genes ... After being initiated in 1989, it was the first vertebrate genome after the human genome to be made publicly available. ...
The 48-base pair VNTR has been the subject of much speculation about its evolution and role in human behaviors cross-culturally ... The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5.[citation needed] There are slight variations ( ... mutations/polymorphisms) in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases ... "The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus". American Journal of Human Genetics ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Table 1: Gene names and chromosomal locations for the various subunits of polymerase delta in human, mouse, budding and fission ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ...
The human RUFY2 gene is located on the long (q) arm of chromosome 10 at region 21 band 3, from base pair 70,100,864 to base ... The gene produces a 2,080 base pair mRNA. There are 18 predicted exons in the human gene with 13 alternative transcripts. 8,180 ... RUN and FYVE domain containing 2 (RUFY2) is a protein that in humans is encoded by the RUFY2 gene. The RUFY2 gene is named for ... While 6,770 base pairs downstream from RUFY2 is a DNA2 conserved helicase/nuclease involved in the maintenance of mitochondrial ...
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. ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. The ... called chromosomes. These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. ... These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. www.Options-Trading- ... The human genome is the sum total of all human genes.Human genes are present on long strands of DNA (complex molecules) called ...
Chromosomes, Human, Pair 12* Actions. * Search in PubMed * Search in MeSH * Add to Search ... chromosome 12p, the CDKN2A/p16 gene, and chromosome 13q-loci previously noted to be altered in either intracranial or systemic ... Hypomethylated X Chromosome Gain and Rare Isochromosome 12p in Diverse Intracranial Germ Cell Tumors Yoshifumi Okada 1 , Ryo ... Hypomethylated X Chromosome Gain and Rare Isochromosome 12p in Diverse Intracranial Germ Cell Tumors Yoshifumi Okada et al. J ...
Human body cells normally have 46 chromosomes arranged in 23 pairs. Pairs of human chromosomes numbered from 1 through 22 are ... Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a ... Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual. ... located on the short arm of chromosome 6 (6p21.1), the XPA gene, located on the long arm of chromosome 9 (9q22.33), and the XPC ...
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 ... Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype Quebec Spinocerebellar Degenerations - ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
The Human Condition is a collection of papers by leading evoluti... ... Read chapter 10 Footprints of Nonsentient Design Inside the Human Genome--John C. Avise : ... Because duplicate genes show close sequence similarity, they predispose chromosomes to pair abnormally during meiosis. Such ... PART I: HUMAN PHYLOGENETIC HISTORY AND THE PALEONTOLOGICAL RECORD 1-4 * 1 Reconstructing Human Evolution: Achievements, ...
Wierzbowski AP Biology Chapter 13 Meiosis and Sexual Life Cycles A. Introduction to Heredity a. Legacy of the Genome i. A ... b. Human Life Cycle i. A somatic cell is a non-sexual cell (46 chromosomes). ii. Every chromosome is different inside a cell. ... iii. Every chromosome in the somatic cell has a matching copy. These are known as a homologous pair. ... Wierzbowski AP Biology Chapter 13 Meiosis and Sexual Life Cycles A. Introduction to Heredity a. Legacy of the Genome i. A ...
Measuring chromosome imbalance could clarify cancer prognosis. Most human cells have 23 pairs of chromosomes. Any deviation ... New role in spatial chromosome organization identified for often mutated cancer protein. New research from The Wistar Institute ... Researchers from the Hubrecht Institute and Radboud University have developed a human model in which they use organoids, or ... These countries have high incidences of cervical cancer linked to human papillomavirus ... ...
Ex humans have 46 chromosomes 23 pairs of chromosomes *Source of pairs each parent provides one chromosome of the pair ... 12.2 Chromosome Number 15. 12.2 Chromosome Number*Diploid (2n) a cell with the double set of chromosomes ... 12.2 Chromosome Number*Meiosis process that produces haploid gametes (sperm eggs) *It can also produce spores haploid cells ... Chapter 2 - Title: Chapter 2 Chromosomes and Sexual Reproduction Author: Jill Last modified by: Jill Carroll Created Date: 1/17 ...
A normal human cell contains 23 pairs of chromosomes. Patau Syndrome. Patau syndrome is a result of an extra chromosome in the ... each cell in the human body carries 23 pairs of chromosomes. At conception, when cells begin to divide, an extra chromosome may ... Trisomies can happen on any one of the human bodys 23 chromosomes, and are usually named by number according to the chromosome ... attach to a pair of chromosomes. This creates cells with 47 chromosomes rather than 46. The extra chromosome is usually ...
... human) Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. ... People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of ... "The DNA sequence and analysis of human chromosome 13". Nature 428 (6982): 522-8. PMID 15057823.. ... The following conditions are caused by changes in the structure or number of copies of chromosome 13: * Retinoblastoma: A small ...
The human genome comprises about 3 billion nucleotides organized into 23 chromosome pairs. Each chromosome comprises DNA and ... The isolated sequences are no longer located on a human chromosome and therefore are not necessarily assembled in the native ... While a human body does transcribe a gene into mRNA, which is then translated into a protein, the human body does not isolate ... Genes and human genetic sequences are comprised of DNA. The term DNA is an acronym for a chemical compound which is also known ...
Each chromosome contains one DNA molecule and each DNA molecule contains several genes or... ... Genes are individual segments of DNA and chromosomes are structures which contain many genes packed together. ... while a human being has 46 chromosomes, or 23 pairs. Human chromosomes range from 300 genes to 8,000 genes in size. ... Do Homologous Pairs of Chromosomes Carry the Same Genes?. A: Homologous pairs of chromosomes carry the same genes. Although the ...
one of the pair of chromosomes numbered 13 is missing: there is a deletion. of one gene, or allele, from one chromosome of the ... Moreover, many other solid human tumours. lose the initial heterozygosity of the chromosomes. ... which part of a chromosome becomes deleted, leading to the loss of a normal. gene from one of a pair of matching (homologous) ... chromosomes. To test this. idea, Cavenee first looked at retinoblastoma, a rare human cancer of the. eye known to run in ...
C16orf13 is located on the short arm of chromosome 16 in humans, in the thirteenth open reading frame. There are five ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... "Human PubMed Reference:". "Mouse PubMed Reference:". "C16orf13 - UPF0585 protein C16orf13 - human protein (Identifiers)". ... Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. ...
24 pairs) and humans carry a fused chromosome; or ancestor had 23 pairs and apes carry split chromosomes. Chromo types: ... "fused chromosomes in humans" to be interesting and thought provoking. If according to Dr. Ken Miller - the 2 human chromosomes ... The evolutionary hypothesis of common ancestry says that our chromosome numbers are very close to the great apes: less 2. Human ... If humans was the product of this supposed "fusing" of genes of the "great apes" - why do we posses qualities such as: love, ...
Eukaryotic cells, including human cells, form paired condensed chromosomes before cell division. The paired chromosomes are ... Direct evidence that bioclocks control chromosome coiling. November 21, 2007 Cyanobacteria (blue-green algae). Credit: Johnson ... With a circular chromosome (as in cyanobacteria), twisting it at any point affects the entire molecule. When you twist a linear ... The chromosomes in cyanobacteria are organized in circular molecules of DNA. In their relaxed state, they form a single loop. ...
Bos taurus chromosome 13 open reading frame, human C20orf111 (C13H20orf111), mRNA.. Aliases:. Not Available. ...
C21orf59 is a gene found on the 21st chromosome at 21q22.1. A total of thirteen splice variants have been found, but only ... The most common form of C21orf59 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are ... 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins ... "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC ...
The following is a partial list of genes on human chromosome 5. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 13. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building material of ... International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human ...
28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 28) 23 pairs of chromosomes in the human body. 31) 6 balls to an over in cricket, Im not sure you would know that.... hope ... 13 L in a B D ??. 25 52 W in a Y 52 weeks in a year 26 9 L of a C 9 lives of a cat 27 60 M in a H 60 minutes in a hour 28 23 P ... 13 S in the USF ??. 8 18 H on a G C 18 holes on a golf course 9 39 B of the O T ??. 10 5 T on a F ??. 11 90 D in a R A 90 ...
In humans, the 22 pairs of chromosomes that dont include the sex chromosomes are called? ... A human cell has 46 total or 23 pairs of chromosomes. Following mitosis, the daughter cells would each have a total of ______ ... chromosomes. After meiosis I, the two daughter cells would have _____chromosomes, and after meiosis II ______ chromosomes. ... What are the replicated forms of a chromosome joined together by the centromere and eventually separated during mitosis or ...
1997) Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic ... 1999) Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proc Natl Acad Sci U S A 96: ... 2000) Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in a paired-sibling analysis ... 1997) New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes 46: 876-881. * View Article ...
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... The human nucleotide diversity is estimated to be 0.1% to 0.4% of base pairs. A difference of 1 in 1,000 amounts to ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... No two humans are genetically identical. On average, in DNA sequence, each human is 99.5% similar to any other human. Even ...
  • Chromosomes are thread-shaped structures that are found in cells of living organisms and that contain DNA , a nucleic acid that contains the genetic instructions for those organisms. (wisegeek.com)
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