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 Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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)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)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 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.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.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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.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.Chromosome Deletion: Actual loss of portion of a chromosome.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, 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.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.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES 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.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, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.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.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosomes, Human, Pair 8: 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.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.Y Chromosome: The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.Platypus: A small aquatic oviparous mammal of the order Monotremata found in Australia and Tasmania.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, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.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.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.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.Dosage Compensation, Genetic: Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE DOSAGE. This term is usually used in discussing genes that lie on the SEX CHROMOSOMES. Because the sex chromosomes are only partially homologous, there is a different copy number, i.e., dosage, of these genes in males vs. females. In DROSOPHILA, dosage compensation is accomplished by hypertranscription of genes located on the X CHROMOSOME. In mammals, dosage compensation of X chromosome genes is accomplished by random X CHROMOSOME INACTIVATION of one of the two X chromosomes in the female.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)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.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.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.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.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).Genes, X-Linked: Genes that are located on the X 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.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.Hypoxanthine Phosphoribosyltransferase: An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or 6-mercaptopurine to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.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.Steryl-Sulfatase: An arylsulfatase with high specificity towards sulfated steroids. Defects in this enzyme are the cause of ICHTHYOSIS, X-LINKED.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.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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.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.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.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.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.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.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).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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Phosphoglycerate Kinase: An enzyme catalyzing the transfer of a phosphate group from 3-phospho-D-glycerate in the presence of ATP to yield 3-phospho-D-glyceroyl phosphate and ADP. EC 2.7.2.3.SulfatasesBlotting, 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.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.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.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.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."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.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).Macropodidae: A family of herbivorous leaping MAMMALS of Australia, New Guinea, and adjacent islands. Members include kangaroos, wallabies, quokkas, and wallaroos.Cell Line: Established cell cultures that have the potential to propagate indefinitely.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Glucosephosphate DehydrogenaseGenome, 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.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.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.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Genetic Variation: Genotypic differences observed among individuals in a population.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.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.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.Cricetulus: A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.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.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.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.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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.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.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.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.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.Muscular Dystrophies: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.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.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.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)Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Abnormalities, MultiplePolyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.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)Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.DNA Replication: The process by which a DNA molecule is duplicated.Clone Cells: A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)Nucleotide Mapping: Two-dimensional separation and analysis of nucleotides.Cell Fusion: Fusion of somatic cells in vitro or in vivo, which results in somatic cell hybridization.Fragile X Syndrome: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)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.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.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.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).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.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.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.DNA, Recombinant: Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.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.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.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.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.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.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.)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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.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.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).Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.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.Dinucleoside Phosphates: A group of compounds which consist of a nucleotide molecule to which an additional nucleoside is attached through the phosphate molecule(s). The nucleotide can contain any number of phosphates.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.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.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.Methylation: Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.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).Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.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)Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.Homozygote: An individual in which both alleles at a given locus are identical.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Ploidies: The degree of replication of the chromosome set in the karyotype.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.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.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.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.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)Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.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)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.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.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.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.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)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.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.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.Genes, Bacterial: The functional hereditary units of BACTERIA.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Syndrome: A characteristic symptom complex.

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. (1/1094)

Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.  (+info)

Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. (2/1094)

Research over the past few years has clearly demonstrated that infertile men have an increased frequency of chromosome abnormalities in their sperm. These studies have been further corroborated by an increased frequency of chromosome abnormalities in newborns and fetuses from pregnancies established by intracytoplasmic sperm injection. Most studies have considered men with any type of infertility. However, it is possible that some types of infertility have an increased risk of sperm chromosome abnormalities, whereas others do not. We studied 10 men with a specific type of infertility, asthenozoospermia (poor motility), by multicolor fluorescence in situ hybridization analysis to determine whether they had an increased frequency of disomy for chromosomes 13, 21, XX, YY, and XY, as well as diploidy. The patients ranged in age from 28 to 42 yr (mean 34.1 yr); they were compared with 18 normal control donors whose ages ranged from 23 to 58 yr (mean 35.6 yr). A total of 201 416 sperm were analyzed in the men with asthenozoospermia, with a minimum of 10 000 sperm analyzed per chromosome probe per donor. There was a significant increase in the frequency of disomy in men with asthenozoospermia compared with controls for chromosomes 13 and XX. Thus, this study indicates that infertile men with poorly motile sperm but normal concentration have a significantly increased frequency of sperm chromosome abnormalities.  (+info)

MOUSE (Mitochondrial and Other Useful SEquences) a compilation of population genetic markers. (3/1094)

Mitochondrial and Other Useful SEquences (MOUSE) is an integrated and comprehensive compilation of mtDNA from hypervariable regions I and II and of the low recombining nuclear loci Xq13.3 from about 11 200 humans and great apes, whose geographic and if applicable, linguistic classification is stored with their aligned sequences and publication details. The goal is to provide population geneticists and genetic epidemiologists with a comprehensive and user friendly repository of sequences and population information that is usually dispersed in a variety of other sources. AVAILABILITY: http://www.gen-epi.de/mouse. SUPPLEMENTARY INFORMATION: Documentation and detailed information on population subgroups is available on the homepage: http://www.gen-epi.de/mouse  (+info)

Bipolar disorder susceptibility region on Xq24-q27.1 in Finnish families. (4/1094)

Bipolar disorder (BPD) is a common disorder characterized by episodes of mania, hypomania and depression. The genetic background of BPD remains undefined, although several putative loci predisposing to BPD have been identified. We have earlier reported significant evidence of linkage for BPD to chromosome Xq24-q27.1 in an extended pedigree from the late settlement region of the genetically isolated population of Finland. Further, we established a distinct chromosomal haplotype covering a 19 cM region on Xq24-q27.1 co-segregating with the disorder. Here, we have further analyzed this X-chromosomal region using a denser marker map and monitored X-chromosomal haplotypes in a study sample of 41 Finnish bipolar families. Only a fraction of the families provided any evidence of linkage to this region, suggesting that a relatively rare gene predisposing to BPD is enriched in this linked pedigree. The genome-wide scan for BPD predisposing loci in this large pedigree indicated that this particular X-chromosomal region provides the best evidence of linkage genome-wide, suggesting an X-chromosomal gene with a major role for the genetic predisposition of BPD in this family.  (+info)

Sperm aneuploidy rates in younger and older men. (5/1094)

BACKGROUND: In order to assess the possible risk of chromosomal abnormalities in offspring from older fathers, we investigated the effects of age on the frequency of chromosomal aneuploidy rates of human sperm. METHODS AND RESULTS: Semen samples were collected from 15 men aged <30 years (24.8 +/- 2.4 years) and from eight men aged >60 years (65.3 +/- 3.9 years) from the general population. No significant differences in ejaculate volume, sperm concentration and sperm morphology were found, whereas sperm motility was significantly lower in older men (P = 0.002). For the hormone values, only FSH was significantly elevated in the older men (P = 0.004). Multicolour fluorescence in-situ hybridization was used to determine the aneuploidy frequencies of two autosomes (9 and 18); and of both sex chromosomes using directly labelled satellite DNA probes on decondensed sperm nuclei. A minimum of 8000 sperm per donor and >330 000 sperm in total were evaluated. The disomy rates per analysed chromosomes were 0.1-2.3% in younger men and 0.1-1.8% in older men. The aneuploidy rate determined for both sex chromosomes and for the autosomes 9 and 18 were not significantly different between the age groups. CONCLUSIONS: The results suggest that men of advanced age still wanting to become fathers do not have a significantly higher risk of procreating offspring with chromosomal abnormalities compared with younger men.  (+info)

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. (6/1094)

BACKGROUND: Alport syndrome (AS) is a hereditary nephropathy characterized by progressive renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene encoding the alpha 5-chain of type IV collagen have been described, establishing the molecular cause of AS. The goal of the present study was to identify the genotype-phenotype correlations that are helpful in clinical counseling. COL4A5-mutations (n=267) in males were analysed including 23 German Alport families. METHODS: Exons of the COL4A5 gene were PCR-amplified and screened by Southern blot, direct sequencing or denaturing gradient gel electrophoresis. Phenotypes were obtained by questionnaires or extracted from 44 publications in the literature. Data were analysed by Kaplan-Meier statistics, chi(2) and Kruskal-Wallis tests. RESULTS: Genotype-phenotype data for 23 German Alport families are reported. Analysis of these data and of mutations published in the literature showed the type of mutation being a significant predictor of end-stage renal failure (ESRF) age. The patients' renal phenotypes could be grouped into three cohorts: (1) large rearrangements, frame shift, nonsense, and splice donor mutations had a mean ESRF age of 19.8+/-5.7 years; (2) non-glycine- or 3' glycine-missense mutations, in-frame deletions/insertions and splice acceptor mutations had a mean ESRF age of 25.7+/-7.2 years and fewer extrarenal symptoms; (3) 5' glycine substitutions had an even later onset of ESRF at 30.1+/-7.2 years. Glycine-substitutions occurred less commonly de novo than all other mutations (5.5% vs 13.9%). However, due to the evolutionary advantage of their moderate phenotype, they were the most common mutations. The intrafamilial phenotype of an individual mutation was found to be very consistent with regards to the manifestation of deafness, lenticonus and the time point of onset of ESRF. CONCLUSIONS: Knowledge of the mutation adds significant information about the progress of renal and extrarenal disease in males with X-linked AS. We suggest that the considerable prognostic relevance of a patient's genotype should be included in the classification of the Alport phenotype.  (+info)

Low frequency of MECP2 mutations in mentally retarded males. (7/1094)

A high frequency of mutations in the methyl CpG-binding protein 2 (MECP2) gene has recently been reported in males with nonspecific X-linked mental retardation. The results of this previous study suggested that the frequency of MECP2 mutations in the mentally retarded population was comparable to that of CGG expansions in FMR1. In view of these data, we performed MECP2 mutation analysis in a cohort of 475 mentally retarded males who were negative for FMR1 CGG repeat expansion. Five novel changes, detected in seven patients, were predicted to change the MECP2 coding sequence. Except for one, these changes were not found in a control population. While this result appeared to suggest a high mutation rate, this conclusion was not supported by segregation studies. Indeed, three of the five changes could be traced in unaffected male family members. For another change, segregation analysis in the family was not possible. Only one mutation, a frameshift created by a deletion of two bases, was found to be de novo. This study clearly shows the importance of segregation analysis for low frequency mutations, in order to distinguish them from rare polymorphisms. The true frequency of MECP2 mutations in the mentally retarded has probably been overestimated. Based on our data, the frequency of MECP2 mutations in mentally retarded males is 0.2% (1/475).  (+info)

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. (8/1094)

The retinitis pigmentosa GTPase regulator (RPGR) is encoded by the X-linked RP3 locus, which upon genetic lesions leads to neurodegeneration of photoreceptors and blindness. The findings that RPGR specifically and directly interacts in vivo and in vitro with retina-specific RPGR-interacting protein 1 (RPGRIP) and that human mutations in RPGR uncouple its interaction with RPGRIP provided the first clue for the retina-specific pathogenesis of X-linked RP3. Recently, mutations in RPGRIP were found to lead to the retinal dystrophy, Leber congenital amaurosis. However, mouse models null for RPGR had, surprisingly, a very mild phenotype compared with those observed in XlRP3-affected humans and dogs. Moreover, recent reports are seemingly in disagreement on the localization of RPGR and RPGRIP in photoreceptors. These discrepancies were compounded with the finding of RPGR mutations leading exclusively to X-linked cone dystrophy. To resolve these discrepancies and to gain further insight into the pathology associated with RPGR- and RPGRIP-allied retinopathies, we now show, using several isoform-specific antibodies, that RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. In humans, they also localize in cone outer segments. RPGRIP is also expressed in other neurons such as amacrine cells. Thus, the data lend support to the existence of species-specific subcellular processes governing the function and/or organization of the photoreceptor outer segment as reflected by the species-specific localization of RPGR and RPGRIP protein isoforms in this compartment, and provide a rationale for the disparity of phenotypes among species and in the human.  (+info)

*Human artificial chromosome

A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. That ... 21HAC is based on a stripped copy of human chromosome 21, producing a chromosome 5 Mb in length. Truncation of chromosome 21 ... Yeast artificial chromosomes and bacterial artificial chromosomes were created before human artificial chromosomes, which first ... "A new chromosome 14-based human artificial chromosome (HAC) vector system for efficient transgene expression in human primary ...

*Chromosome 1 (human)

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... See also: Category:Genes on human chromosome 1. The following is a partial list of genes on human chromosome 1. For complete ... G-banding ideograms of human chromosome 1 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ... chromosome 1 open reading frame 49 C1orf74: chromosome 1 open reading frame 74 C1orf106: chromosome 1 open reading frame 106 ...

*Chromosome 22 (human)

Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each ... Chromosome 22 was the first human chromosome to be fully sequenced. Chromosome 22 was originally identified as the smallest ... Chromosome 22 is the second smallest human chromosome (chromosome 21 being smaller), spanning about 49 million DNA base pairs ... See also: Category:Genes on human chromosome 22. The following is a partial list of genes on human chromosome 22. For complete ...

*Chromosome 7 (human)

Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 7 In the ... See also: Category:Genes on human chromosome 7. The following is a partial list of genes on human chromosome 7. For complete ... "Chromosome 7". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 7". Human Genome Project Information Archive 1990- ...

*Chromosome 5 (human)

Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 5 "Human ... See also: Category:Genes on human chromosome 5. The following is a partial list of genes on human chromosome 5. For complete ... Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by ...

*Chromosome 15 (human)

Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 15. The following is a partial list of genes on human chromosome 15. For complete ... "Chromosome 15". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 15". Human Genome Project Information Archive 1990- ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test. 3 (3): 309-322 ...

*Chromosome 11 (human)

Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 11. The following is a partial list of genes on human chromosome 11. For complete ... At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome ... "Chromosome 11". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 11". Human Genome Project Information Archive 1990- ...

*Chromosome 2 (human)

Humans have only 23 pairs of chromosomes. Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes. ... Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 ... See also: Category:Genes on human chromosome 2. The following is a partial list of genes on human chromosome 2. For complete ... The closest human relative, the chimpanzee, has near-identical DNA sequences to human chromosome 2, but they are found in two ...

*Chromosome 6 (human)

Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 ... See also: Category:Genes on human chromosome 6. The following is a partial list of genes on human chromosome 6. For complete ... "Chromosome 6". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 6". Human Genome Project Information Archive 1990- ... "Chromosome 6 Project - Chromosome 6 Research Project". Chromosome 6 Research Project. Retrieved 2017-06-17. Some text in this ...

*Chromosome 3 (human)

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 ... See also: Category:Genes on human chromosome 3. The following is a partial list of genes on human chromosome 3. For complete ... "Chromosome 3". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 3". Human Genome Project Information Archive 1990- ... G-banding ideograms of human chromosome 3 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ...

*Chromosome 20 (human)

Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 63 million base pairs (the building ... See also: Category:Genes on human chromosome 20. The following is a partial list of genes on human chromosome 20. For complete ... "Chromosome 20". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 20". Human Genome Project Information Archive 1990- ... G-banding ideograms of human chromosome 20 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ...

*Chromosome 9 (human)

Chromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they ... See also: Category:Genes on human chromosome 9. The following is a partial list of genes on human chromosome 9. For complete ... Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test. 5 (2): ... "Chromosome 9". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 9". Human Genome Project Information Archive 1990- ...

*Chromosome 12 (human)

Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 12. The following is a partial list of genes on human chromosome 12. For complete ... Chromosome 12 contains the Homeobox C gene cluster. The following are some of the gene count estimates of human chromosome 12. ... Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): ...

*Chromosome 4 (human)

Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 ... See also: Category:Genes on human chromosome 4. The following is a partial list of genes on human chromosome 4. For complete ... "Chromosome 4". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 4". Human Genome Project Information Archive 1990- ... "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test. 7 (4): 351-72. doi:10.1089/ ...

*Chromosome 19 (human)

Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 19. The following is a partial list of genes on human chromosome 19. For complete ... "Chromosome 19". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 19". Human Genome Project Information Archive 1990- ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ...

*Chromosome 21 (human)

Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is the smallest human autosome, with 48 million ... Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22. The following are some of the gene ... See also: Category:Genes on human chromosome 21. The following is a partial list of genes on human chromosome 21. For complete ... "Chromosome 21". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 21". Human Genome Project Information Archive 1990- ...

*Chromosome 17 (human)

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 17. The following is a partial list of genes on human chromosome 17. For complete ... Chromosome 17 contains the Homeobox B gene cluster. The following are some of the gene count estimates of human chromosome 17. ... "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 17". Human Genome Project Information Archive 1990- ...

*Human Y-chromosome DNA haplogroup

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of ... Y-chromosome DNA (Y-DNA) haplogroups are the major branches on the human paternal family tree. Each haplogroup has many ... 2015, Phylogeographic refinement and large scale genotyping of human Y chromosome haplogroup E provide new insights into the ... Chiaroni, Jacques; Underhill, Peter A.; Cavalli-Sforza, Luca L. (1 December 2009). "Y chromosome diversity, human expansion, ...

*Segmental Duplication on the Human Y Chromosome

4] On the human Y chromosome as well as other primate Y chromosomes, the pericentromeric and subtelomeric regions are the most ... 3] The human Y chromosome contains the greatest proportion of duplicated sequence within the human genome at 50.4%. [3] The ... There exist three copies of this human region on the chimpanzee Y chromosome with two surrounding the Y chromosome centromere ... 8] The chimpanzee Y chromosome completely spans the orthologous part of the human region, and the human region is completely ...

*Polysomy

Since canine chromosome 13 is similar to human chromosome 8q, research could provide insight to treatment for prostate cancer ... Human Chromosomes. New York: Springer, 2001. Schmid, M., and Indrajit Nanda. Chromosomes Today, Volume 14. Dordrecht: Kluwer ... 2000). "Reciprocal chromosome painting illuminates the history of genome evolution of the domestic cat, dog and human". ... Klinefelter syndrome is an example of human polysomy X with the karyotype 47, XXY. X chromosome polysomies can be inherited ...

*Elective genetic and genomic testing

Genetic testing for a variety of disorders has seen many advances starting with cytogenetics to evaluate human chromosomes for ... Genetic testing identifies changes in chromosomes, genes, or proteins; some are associated with human disease. There are many ... Yunis, JJ (26 March 1976). "High resolution of human chromosomes". Science. 191 (4233): 1268-70. PMID 1257746. Yunis, JJ; ... Chromosome analysis, also known as karyotyping refers to testing that assesses whether the expected number of chromosomes are ...

*Christopher Cherniak

Cherniak, Christopher; Rodriguez-Esteban, Raul (2015). "Body maps on human chromosomes". UMIACS Tech Report: 2015-04. ... Now a connection-minimization idea is being explored for the human genome. Information transmission may not be cost-free even ... For example, a statistically significant supra-chromosomal homunculus - a global representation of the human body - appears to ... Cherniak, Christopher; Rodriguez-Esteban, Raul (2013). "Body maps on the human genome". Mol. Cytogenet. 6 (1): 61. doi:10.1186/ ...

*46 (number)

Barbara J. Trask, "Human genetics and disease: Human cytogenetics: 46 chromosomes, 46 years and counting" Nature Reviews ... The number of human chromosomes. The approximate molar mass of ethanol (46.07 g mol−1) Messier object M46, a magnitude 6.5 open ... Rush discovers that the number 46 relates to the number of human chromosomes and begins sequencing different genetic codes to ... "Human cytogenetics was born in 1956 with the fundamental, but empowering, discovery that normal human cells contain 46 ...

*Chromosomal fragile site

"DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes". Human ... Sutherland, GR; Baker, E; Seshadri, RS (Jul 1980). "Heritable fragile sites on human chromosomes. V. A new class of fragile ... Debacker, K; Kooy, RF (Oct 15, 2007). "Fragile sites and human disease". Human Molecular Genetics. 16 Spec No. 2: R150-8. doi: ... Fragile Sites on Human Chromosomes. New York and Oxford: Oxford University Press, 280 pages (1985). Schwartz, M.; Zlotorynski, ...

*Marcello Siniscalco

"Mapping on human and mouse chromosomes of the gene for the β-galactoside-binding protein, an autocrine-negative growth factor ... He was also elected a member of the Human Genome Organisation's Executive Committee on Human Genome Diversity, and authored the ... to human chromosome site 1p34. Cytogenetic and Genome Research, 65(3), 177-178. www.karger.com/Article/Abstract/133626 Romani, ... Localization of genes on human chromosomes. In Genetics Today, Proceedings 11th International Congress of Genetics, The Hague, ...

*UCKL1

2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... Uridine-cytidine kinase-like 1 is an enzyme that in humans is encoded by the UCKL1 gene. GRCh38: Ensembl release 89: ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
Subtelomeric imbalances are a frequent cause of cytogenetic abnormalities in patients with unexplained intellectual disability. Functional disomy of Xq28 involving the methyl-CpG-binding protein 2 gene (MECP2) has been observed mostly in subtelomeric duplications. We identified three patients with functional disomy of Xq28. A female patient showed an unbalanced translocation between 12q24.33 and Xq28. Two male patients showed an unbalanced translocation between Xq27.1- Yq11.22 and a recombinant X-chromosome containing duplicated material from Xq27.1 on Xp telomere, respectively. All three patients exhibited severe developmental delay, hypotonia, seizures, and distinctive facial features, including flat nasal bridge and hypertelorism. Additionally, brain magnetic resonance imaging (MRI) showed characteristic findings in each patient, including frontal dominant brain atrophy and hypoplasia of the corpus callosum, which are common findings in patients with functional disomies of Xq28 and ...
The X chromosome in humans spans more than 153 million base pairs (the building material of DNA). It represents about 800 protein-coding genes compared to the Y chromosome containing about 70 genes, out of 20,000-25,000 total genes in the human genome. Each person usually has one pair of sex chromosomes in each cell. Females have two X chromosomes, whereas males have one X and one Y chromosome. Both males and females retain one of their mothers X chromosomes, and females retain their second X chromosome from their father. Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother (fathers side), and one X chromosome from her mother. This inheritance pattern follows the Fibonacci numbers at a given ancestral depth. Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. The X chromosome carries hundreds of genes but few, if any, of these have anything to do directly with sex ...
Triple X syndrome (also known as XXX syndrome, 47,XXX, and trisomy X) is a genetic condition found in girls only. Girls who have it may be taller than average, but the symptoms can vary greatly.
If the Father provided a Y chromosome then the genotype would be 46XY and the child would be male Boys with Klinefelters syndrome have an extra X chromosome making their genotype 47XXY. The additional X chromosome can come from either parent.. I set out some diagrams in a word document to help explain this point. Unfortunately much as I have tried I can not publish them onto here!? ...
Klinefelters Syndrome is the most frequent sex chromosomal genetic disorder and is caused by the presence of an extra X chromosome.
A recent study in chimpanzees reported an excess of dN/dS compared with pN/pS on the X chromosome but not on autosomes [15]. This result was interpreted as the consequence of a higher rate of fixation of partial recessive beneficial alleles on the X chromosome, again a consequence of hemizygosity. To evaluate this result in humans, we computed the DoS statistic for each human chromosome. A positive value of the DoS (excess of dN/dS relative to pN/pS) is indicative of positive selection while a negative DoS reflects the influence of purifying selection. We report that the human X chromosome does indeed have a higher DoS than the autosomes (−0.134 versus −0.171 for X chromosome and median autosomes, respectively). Some autosomes have, however, a DoS very close to that of the X chromosome, for example, chromosome 21 (DoS = −0.129) and chromosome 14 (DoS = −0.139). Moreover, the confidence interval on DoS, estimated by bootstrapping genes within chromosomes (1000 replicates), was very large ...
... : Genes, Leukemias, Solid Tumors, and Cancer-Prone Diseases located on Chromosome X reviewed and published in the Atlas of Genetics and Cytogenetics in Oncology and Haematology
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A few days ago I discussed a new paper which explores the patterns of natural selection in the genome of the X chromosome. As you know the X is carried disproportionately by females, as males have only one copy, so it offers up an interesting window into evolutionary dynamics (see The Red Queen for a popular treatment).
Producing brightly speckled red and green snapshots of many different tissues, Johns Hopkins researchers have color-coded cells in female mice to display which of their two X chromosomes has been made inactive, or
Randomly, one of two X/X chromosomes is deactivated {for gene balancing (males have only one X chromosome )}. Because one X comes from mother and one from father, they may have different alleles. Thus, a clone of tissue produced from ancestral cell with, say, fathers deactivated X chromosome will have different genotype than a clone produced from the ancestral cell with deactivated mothers X chromosome ...
This course will explore a diverse collection of striking biological phenomena associated with the X chromosome. We will examine the genetic basis and
Nearly every girl and woman on Earth carries two X chromosomes in each of her cells -- but one of them does (mostly) nothing. Do you know why?
In order for a male to express a recessive sex-linked trait that is located on X chromosomes, he must have _______________________________. an...
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Why women are disproportionately affected by autoimmune disease is not fully known or understood, although the hypotheses are numerous. Some research suggests that estrogen may help antibody production and immune system response, but can also lead to an overly active immune system. Other research indicates that genes on the X chromosomes may play a role in these immune system mutinies, and women - who have two X chromosomes - may thus be at an increased risk over men who have only one X chromosome ...
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.. Humans have 46 chromosomes, which contain all of a persons genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person?s gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In this variation, some of the cells in the males body have an additional X chromosome, and the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough normally functioning ...
Supplement In humans, the sex chromosomes are the X chromosome and the Y chromosome. The basis of sex determination in humans is on the pair of sex chromosomes present in an individual. For instance, the presence of two X chromosomes characterizes a female whereas the presence of one X chromosome and one Y chromosome is a characteristic of a male. There are instances though when certain individuals have a different set of chromosomal composition. One of them is an individual with XXY chromosomes. This genetic condition is referred to as Klinefelter syndrome. Klinefelter syndrome is a genetic condition characterized by the presence of at least one extra X chromosome in males. The condition may not be detected early on since most of the symptoms become noticeable at puberty. Males with this condition have less body hair, weaker muscles, greater height, enlarged breasts, broader hips, and small testes. Many of these symptoms are associated with less testosterone produced in males with Klinefelter ...
In species with chromosomal sex determination, X chromosomes are predicted to evolve faster than autosomes because of positive selection on recessive alleles or weak purifying selection. We investigated X chromosome evolution in Stegodyphus spiders that differ in mating system, sex ratio, and population dynamics. We assigned scaffolds to X chromosomes and autosomes using a novel method based on flow cytometry of sperm cells and reduced representation sequencing. We estimated coding substitution patterns (dN/dS) in a subsocial outcrossing species (S. africanus) and its social inbreeding and female-biased sister species (S. mimosarum), and found evidence for faster-X evolution in both species. X chromosome-to-autosome diversity (piX/piA) ratios were estimated in multiple populations. The average piX/piA estimates of S. africanus (0.57 [95% CI: 0.55-0.60]) was lower than the neutral expectation of 0.75, consistent with more hitchhiking events on X-linked loci and/or a lower X chromosome mutation ...
Background: The haplotypes of the X chromosome are accessible to direct count in males, whereas the diplotypes of the females may be inferred knowing the haplotype of their sons or fathers. Here, we investigated: 1) the possible large-scale haplotypic structure of the X chromosome in a Caucasian population sample, given the single-nucleotide polymorphism ( SNP) maps and genotypes provided by Illumina and Affimetrix for Genetic Analysis Workshop 14, and, 2) the performances of widely used programs in reconstructing haplotypes from population genotypic data, given their known distribution in a sample of unrelated individuals. Results: All possible unrelated mother-son pairs of Caucasian ancestry ( N = 104) were selected from the 143 families of the Collaborative Study on the Genetics of Alcoholism pedigree files, and the diplotypes of the mothers were inferred from the X chromosomes of their sons. The marker set included 313 SNPs at an average density of 0.47 Mb. Linkage disequilibrium between ...
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Causes of X chromosome, trisomy Xq including triggers, hidden medical causes of X chromosome, trisomy Xq, risk factors, and what causes X chromosome, trisomy Xq.
Do You Have X Chromosome, Monosomy Xp22 Pter? Join friendly people sharing true stories in the I Have X Chromosome, Monosomy Xp22 Pter group. Find support forums, advice and chat with groups who share this life experience. A X Chromosome, Monosomy Xp...
... is the genetic disorder where a boy is born with more than one X chromosomes. Most males have one X and one Y chromosome. Having extra X chromosomes leads to having certain physical traits unusual for males. This is the forum for discussing anything related to this health condition
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two XX chromosomes. Males normally have an X and a Y chromosome. Klinefelter syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X. This would be written as XXY. Klinefelter syndrome occurs in about 1 out of 500 - 1,000 newborn boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. ...
In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY).
Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells.
What is Klinefelters Syndrome? Klinefelters Syndrome is a genetic disorder first discoverd by Harry Klinefelter in 1942. It is caused by an extra X ch...
Learn how having an extra chromosome produces a genetic disorder known as Klinefelters syndrome, 47,XXY or XXY syndrome. Cause, symptoms and treatment of Klinefelters syndrome
A study from a team of Massachusetts General Hospital (MGH) investigators points toward a potential strategy for treating X-linked disorders - those caused by mutations in the X chromosome - in females.
Alport syndrome is much more common in boys and men because the gene that usually causes it (called COL4A5) is on the X chromosome. Women have two X chromosomes (XX), so they usually have a normal copy as well as an abnormal copy of the gene. Men have only one X chromosome (XY), so if they have a problem with the COL4A5 gene, that is their only copy. Boys who inherit the disease in this way must inherit it from their mother (as the mother contributes the X chromosome and the father the Y). Women who carry the disease on one of their X chromosomes may have minor kidney trouble, such as blood or protein in the urine with high blood pressure, but occasionally get severe disease and develop kidney failure.. In other families the gene involved (COL4A3 and COL4A4) is on another chromosome. In this case, men and women are equally affected, but otherwise the disease seems the same.. ...
Calico cats, renowned and beloved for their funky orange and black patchwork or tortoiseshell fur, can thank X chromosome inactivation or silencing for their unique look.
A genetic syndrome in many mammals caused by the presence of an extra X chromosome in the male (normally XY) karyotype. In humans, this syndrome is characterized by small testes, feminine appearance, sterility (except in the case of genetic mosaics) and possibly mental retardation. In domestic cats, male calicos always have this genetic condition ...
✅ Answered - [One] [Two] [three] [None] are the options of mcq question A woman has a child with Klinefelters syndrome. Number of barr bodies present in the child is realted topics , Genetic basis of Inheritance, Genetic basis of Inheritance topics with 0 Attempts, 0 % Average Score, 2 Topic Tagged and 0 People Bookmarked this question which was asked on Feb 23, 2019 23:23
Scientists expose the X chromosomes complete genetic sequence. New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago.
Semantic Scholar extracted view of Three unusual trisomic patterns in children. Triple X plus triple E-triple X mosaic: normal XY-D trisomy mosaic; partial trisomy with E translocation. by Emerson Engel et al.
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X chromosome, trisomy Xq25 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
The addition of a chemical tag on an RNA molecule is the critical switch that inactivates one X chromosome in every cell, ensuring healthy development in all female mammals, according to new research by Weill Cornell Medicine ...
syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male. ...
X chromosome abnormalities. Abnormal or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the abnormal or missing parts of one of the X chromosomes (mosaicism ...
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I got ten mosquito bites in the time it took me to check my rs309375 genotype. wp.me/pqWMQ-18g via @wordpressdotcom 2 years ago ...
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Ive released a new version that is a fix for the R10 bug that happens on xp.. The bug was cause by relative path that return something like ...
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Two sources contribute essentially to the presence of anthropogenic radioisotopes in the environment: (i) release from nuclear materials with a major fraction derived from the nuclear bomb testing period during the period 1950-1963 and (ii) emissions from the nuclear industry, such as waste waters from U-mine tailing or nuclear fuel reprocessing plants. This chapter focuses mainly on the major source responsible for global surface contamination, that is, radioisotope aerosol deposition after release into the atmosphere. The atmospheric emissions were caused mainly via surface atomic bomb tests and reactor accidents, with the Chernobyl reactor catastrophe as the most important contribution. In contrast with most fission products, almost all actinides (which are produced via neutron capture reactions) are rather long lived and can be measured in environmental samples with high precision. Some of the actinides (i.e., U, Pu, Cm) consist of various isotopes (e.g.,238,239,240,241Pu) and hence can be ...
HUMARA Assay is one of the most widely used methods to determine the clonal origin of a tumor. The method is based on X chromosome inactivation and it takes the advantage of having different methylation status of a gene called HUMARA (short for Human Androgen receptor) that is located on X chromosome. Considering the fact that once one X chromosome is inactivated in a cell, all other cells derived from it will have the same X chromosome inactivated, this approach becomes a great tool to differentiate a monoclonal population from a polyclonal one in a female tissue. HUMARA gene, in particular, has three important features that make it highly convenient for the purpose. 1-) The gene is located on X chromosome and it goes through inactivation by methylation in normal embryogenesis of a female infant. The fact that most-but not all-genes on X chromosome undergo inactivation, this feature becomes an important one. 2-) Human Androgen Receptor gene alleles have varying numbers of CAG repeats. Thus, ...
Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell (47,XXY). Extra copies of genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and reducing the levels of testosterone. Most people with an extra X chromosome have the features described above, although some have few or no associated signs and symptoms.. Some people with features of Klinefelter syndrome have more than one extra sex chromosome in each cell (for example, 48,XXXY or 49,XXXXY). These conditions, which are often called variants of Klinefelter syndrome, tend to cause more severe signs and symptoms than classic Klinefelter syndrome. In addition to affecting male sexual ...
The process of X chromosome inactivation occurs as early as the blastocyst stage of embryonic life and the inactive state of the chromosome is stably maintained through subsequent cell divisions.2 X inactivation results in equalisation of X chromosome gene expression between male and female cells and is therefore considered a mechanism for dosage compensation. The inactivation process has been well documented in mice12-14 and is beginning to be understood in humans.15 A cis acting RNA transcript known as XIST (X inactivation sequence transcript) is coded from the XIC (X inactivation centre) localised to Xq13. The XIST molecule is not translated to a protein product, but rather is distributed along the length of the X chromosome to form a complex with DNA and the histone variant MacroH2A conformational shape changes to the DNA in proximity to XIST. The final step of inactivation is site specific methylation of cytosine bases.15-17 The end result of the inactivation process is to abrogate gene ...
X-inactivation (also called lyonization) is a process by which one of the copies of the X chromosome present in female mammals is inactivated. The inactive X chromosome is silenced by its being packaged in such a way that it has a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated is random in placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism. Unlike the random X-inactivation in placental mammals, inactivation in marsupials applies exclusively to the paternally derived X chromosome. In 1959 Susumu Ohno showed that the two X-chromosomes of mammals were different: one appeared similar to the ...
Female mammals inactivate one of the two X chromosomes in each somatic cell in order to balance the X-linked gene dosage between females and males (X chromosome inactivation, XCI). This process is mediated by non-coding RNA X inactive specific transcript (Xist). Here, I show that, when embryonic stem (ES) cells were cultured under undifferentiated condition, inducible Xist was sufficient to silence genes in vitro. Furthermore, the induced XCI was counteracted by the endogenous capability of X chromosome reactivation (XCR) in the pluripotent ES cells. Thus, perturbing XCR players should tip the balance towards stronger gene silencing effects. Using this experimental system, we show that shRNA knock- down of histone acetyltransferase Kat8 and its associated protein from Male Specific Lethal (MSL) complex, Msl2, significantly enhanced the gene silencing effect of induced XCI in undifferentiated ES cells. Interestingly, Kat8 and Msl2 are involved in Drosophila dosage compensation by up-regulating ...
Transfer of a normal Chinese hamster X chromosome (carried in a mouse A9 donor cell line) to a nickel-transformed Chinese hamster cell line with an Xq chromosome deletion resulted in senescense of these previously immortal cells. At early passages of the A9/CX donor cells, the hamster X chromosome was highly active, inducing senescence in 100% of the colonies obtained after its transfer into the nickel-transformed cells. However, senescence was reduced to 50% when Chinese hamster X chromosomes were transferred from later passage A9 cells. Full senescing activity of the intact hamster X chromosome was restored by treatment of the donor mouse cells with 5-azacytidine, which induced demethylation of DNA. These results suggest that a senescence gene or genes, which may be located on the Chinese hamster X chromosome, can be regulated by DNA methylation, and that escape from senescence and possibly loss of tumor suppressor gene activity can occur by epigenetic mechanisms. ...
1. Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. 2013;163C:55-63 2. Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012;98:253-60 3. Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995;96(4 Pt 1):672-82 4. Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P. et al. The metabolic syndrome is frequent in Klinefelters syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care. 2006;29:1591-8 5. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007;4:192-204 6. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88:622-6 7. Wistuba J, ...
Limitations: Testing is limited to XX females only. This assay will be uninformative in up to 20 percent of females due to homozygosity for the polymorphic AR gene locus analyzed. XCI patterns may differ among tissues; therefore, the XCI ratio reported is for the tissue type tested with a standard deviation 0.09 in random XCI; 0.06 in non-random XCI. Although this test will detect the methylation status of the X-chromosomes, it will not determine if the X inactivation pattern is associated with rearrangements of the X chromosome, pathogenic variants in X-linked genes or neoplastic disease. If a non-random XCI pattern is present, the parent of origin of the active X cannot be determined without testing parental samples. XCI ratios should not be used to predict prognosis for female carriers of X-linked disorders as variable expressivity may result due to other genetic or environmental modifiers. Because the level of XCI may differ in prenatal specimens and whole blood, this test is not recommended ...
from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mothers cells.[1] ...
Video created by The University of Melbourne for the course Epigenetic Control of Gene Expression. X chromosome inactivation is a really well-characterised epigenetic process that is now used as a model system to study epigenetic processes that ...
In this study, we performed genome-wide transcriptome analyses in the FCG mouse model to determine differences in gene expression due to sex chromosome complement. RNA-Seq analyses of autoantigen-stimulated CD4+ T lymphocytes from autoantigen-immunized C57BL/6 mice showed a cluster of 5 X genes with higher expression in XY− as compared to XX. Quantitative RT-PCR in a separate set of mice confirmed higher expression of Msl3, Prps2, Hccs, Tmsb4x, and Tlr7 in XY− compared to XX. These results were also observed in CD4+ T lymphocytes from nonimmunized, healthy FCG mice stimulated with anti-CD3/CD28 antibodies. Higher expression of an X gene in the XY compared to the XX genotype is in the opposite direction from an X dosage effect but is consistent with a parent-of-origin effect on DNA methylation (23). Examination of the whole methylome in CD4+ T lymphocytes from X-monosomic mice (XmO and XpO) showed that the Xp chromosome had a global increase in DNA methylation at CpG islands compared to Xm. ...
A genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer. ...
Affected males are almost always sterile, and some degree of language impairment may be present. In adults, possible characteristics vary widely and include little to no signs of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue). Gynecomastia to some extent is present in about a third of individuals affected, a higher percentage than in the XY population. The far end of the spectrum is also associated with an increased risk of breast cancer, pulmonary disease, varicose veins, diabetes mellitus, rheumatoid arthritis, and osteoporosis, risks shared with women.. Rare X-linked recessive problems occur even more infrequently in XXY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically carriers rather than affected.. There are many variances within the XXY population, just like in the 46,XY population. While it is possible to characterise ...
A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females.
XWAS: a software toolset for genetic data analysis and association studies of the X chromosome Feng Gao , Diana Chang , Arjun Biddanda , Li Ma , Yingjie Guo , Zilu Zhou , Alon Keinan doi: http://dx.doi.org/10.1101/009795 XWAS is a new software for the analysis of the X chromosome in association studies and similar studies.…
Citation: N/A Interpretive Summary: Identification of genes accounting for significant effects on economically important traits ultimately requires alignment of the human and swine maps. Until now only a few genes have been mapped by linkage analysis on porcine chromosome X. Though the genes mapped to chromosome X are the same in such distinct species as human and mouse, the relative orders of genes are frequently quite different. Therefore to determine if the order of genes on the pig and human X chromosomes are the same we mapped four new genes to add to the five other genes previously mapped. Even after the addition of four genes to the porcine linkage map there is no evidence of rearrangements in gene order between porcine and human X chromosomes. Of newly mapped genes only TBG can be considered a possible candidate gene as it maps to the near proximity of QTL for fatness. Technical Abstract: For amplification of the porcine gene fragments amplification primers were designed from human gene ...
So traits that have large additive genetic components are more easily changed by selection. The authors set out to investigate the genetic basis of gene expression level in Drosophila (for many genes measured on array) and how this differs between males and females. By a series of crosses, the authors find that many more genes show additive genetic variation in their expression level in males than in females, and that a number of these genes are found on the X chromosome (as well as on the autosomes). Now the X chromosome seems to be be the key to this difference in the form of genetic variation (and the authors conduct further experiments to show this). As males have only a single X chromosome there simply is not any dominance due to genetic variation on the X chromosome (at least not simple non-epistatic dominance). The genetic variation on the X chromosome in males mainly contributes to the additive genetic component of variation (as there is no second allele to cause dominance). So genes on ...
Array-MLPA analysis of chromosome X monosomy mosaicism. (A) A female patient (B10) with mosaicism. The average copy number on chromosome X was 0.71. (B) G-bandi
Klinefelters syndrome pictures indicate symptoms like weak bones, diminished energy, delayed puberty etc. Read about Klinefelter syndrome treatment, causes
March 23, 2016: If a woman has two X chromosomes, how do we know which X chromosome each of her offspring has? She received one X from her mother and one X from her father. Will her offspring receive the X from her mother or the X from her father? Is there a 50/50 chance of either? Or does it depend upon the offsprings sex- i.e. females receive X chromosome donated from grandmother, males receive X chromosome donated from grandfather? Do we know for sure ...
Although the fathers chromosomes determine the sex of the baby, the mothers chromosomes determine whether the baby will have hemophilia. The gene with the scrambled directions for blood clotting (hemophilia) is found only on the X chromosome. If the mother is a carrier of hemophilia, then half of all her X chromosomes have on them the scrambled instructions for blood clotting. The other half has clear directions for blood clotting. The clear directions, even if they are only on half her chromosomes, are enough to allow the mother to have normal blood clotting. This is why she does not have hemophilia.. But she is a carrier, so her son might receive from her the X chromosome with the scrambled directions. This is why a mother who is a carrier has a 50% chance of having a son with hemophilia. She might donate an egg with either an X chromosome affected by hemophilia or one not affected by hemophilia. This is also why her daughter might be born a carrier. The daughter might receive an affected X ...
Rett syndrome (RS) was diagnosed in a girl with a t(X;22) (p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a forme fruste of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short arm of chromosome X is likely.
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Klinefelters syndrome (KS) is not as rare as one may think, it is not life threatening but has life altering consequences. About one in 500 boys are born with an extra X chromosome
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Turner syndrome can be defined as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. In the majority of affected...
Zylicz, J. J.; Bousard, A.; Zumer, K.; Dossin, F.; Mohammad, E.; da Rocha, S. T.; Schwalb, B.; Syx, L.; Dingli, F.; Loew, D. et al.; Cramer, P.; Heard, E.: The implication of early chromatin changes in X chromosome inactivation. Cell 176 (1-2), pp. 182 - 197 (2019 ...
Although sperm sorting is not foolproof, it will help families avoid bearing boys at risk for so-called sex-linked genetic diseases (such as hemophilia), which are caused by mutations on the X chromosome. (If the mother has a flawed X chromosome, selecting sperm that carry the fathers healthy X chromosome--thus producing a girl--will help reduce the chance of bearing a child with an X-linked defect.) And it may appeal to any couple who want more control over the sex of their offspring. Indeed, 90 percent of the couples participating in the institutes trial already had two or three children and wanted to balance the number of sons and daughters. But the cost of sorting sperm and flushing them into the uterus--at $1,500 for the sorting procedure and $1,000 for the insemination, with no guarantee of pregnancy--will limit the procedures use in family balancing to determined, well-heeled parents. And some biologists fear that the method--which has so far produced some 400 healthy animals and, as ...
When using autosomal DNA, the X chromosome is a powerful tool with special inheritance properties. Many people think that mitochondrial DNA is the same as the X chromosome. Its not. Mitochondrial DNA is inherited maternally, only. This means that mothers give their mitochondrial DNA to all of their children, but only the females pass it…
This page was last edited 17:26, 14 September 2017 by Eiman Ghaffarpasand. Based on work by Charmaine Patel, Prashanth Saddala, Varun Kumar, Lakshmi Gopalakrishnan, [email protected], Alexandra, Cafer Zorkun, [email protected], Jacki Buros (bot) and Alexandra Almonacid, wikidoc user WikiBot and wikidoc anonymous users Alison, Graham87 and Rei-bot ...
Welcome to the Turner Syndrome (TS) Clinic at MassGeneral Hospital for Children. Our clinic provides a medical home for people of all ages with Turner syndrome.
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So much for racial superiority. Now even species superiority is looking pretty unlikely. Homo Sap has just discovered that all non-Africans carry Neanderthal X chromosomes.
Genetic map and the structure of the unc-78 gene. (a) A part of the left arm of the X chromosome. (b) Arrangement of genes in the cosmid C04F6 (total 25 kb) pre
I suspect the difference in P-values is due to the difference in the way plink codes the X chromosome for males: http://pngu.mgh.harvard.edu/~purcell/plink/faq.shtml#faq9 GWASTools codes males as (0,2), while plink codes them as (0,1). Also GWASTools does not adjust the P-values, so in the plink o ...
hi.. this is a test message.. thanks.. On 30 May 1997, BEZUHOFII wrote: , I would like to receive any information anyone can provide me about this , condition , , ...
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DOSAGE compensation is an essential, chromosome-wide regulatory process that equalizes expression of most X-linked genes between males (usually XO or XY) and females (usually XX), despite their two-fold difference in X chromosome dose. Flies, worms, and mammals utilize diverse mechanisms of dosage compensation, but all involve global changes in X chromosome structure that ultimately serve to adjust the level of X-linked transcripts in only one sex (Cline and Meyer 1996; Meller 2000; Meyer 2000). These X chromosome changes are mediated by dosage compensation machinery that must recognize and associate specifically with the X chromosome(s) of only the dosage-compensating sex. Although the identity and properties of proteins and noncoding RNAs that execute dosage compensation are known in detail, much less is known about the cis-acting factors that must reside on the X chromosome to recruit the dosage compensation machinery. Important advances in understanding the problem of X chromosome ...
X chromosome inactivation (XCI), which occurs only in female (XX) and not in male (XY) embryos, ensures dosage compensation of X‐linked genes between the sexes. The initial steps in XCI involve a counting process, which senses the X chromosomes/autosomes ratio and restricts XCI to female mouse embryos. Initiation of XCI in the embryo proper also includes the random choice of the active (Xa) and the inactive (Xi) Xs in each cell. The selected Xi becomes the target of a chromosome‐wide mechanism of transcriptional silencing, which constitutes an exciting paradigm for epigenetic regulations and confirms interest in the molecular dissection of the X‐inactivation centre (Xic), a locus on the X chromosome that contains the Xist gene and the elements involved in counting, choice and silencing.. The random form of XCI occurs around the time of implantation of the late female blastocyst, in the differentiating epiblast that derives from the inner cell mass (ICM) and that will give rise to the ...
The phenomenon of a remarkable conservation of the X chromosome in eutherian mammals has been first described by Susumu Ohno in 1964. A notable exception is the cetartiodactyl X chromosome, which varies widely in morphology and G-banding pattern between species. It is hypothesized that this sex chromosome has undergone multiple rearrangements that changed the centromere position and the order of syntenic segments over the last 80 million years of Cetartiodactyla speciation. To investigate its evolution we have selected 26 evolutionarily conserved bacterial artificial chromosome (BAC) clones from the cattle CHORI-240 library evenly distributed along the cattle X chromosome. High-resolution BAC maps of the X chromosome on a representative range of cetartiodactyl species from different branches: pig (Suidae), alpaca (Camelidae), gray whale (Cetacea), hippopotamus (Hippopotamidae), Java mouse-deer (Tragulidae), pronghorn (Antilocapridae), Siberian musk deer (Moschidae), and giraffe (Giraffidae) were ...
X monosomic mice (39,XO) have a remarkably mild phenotype when compared to women with Turner syndrome (45,XO). The generally accepted hypothesis to explain this discrepancy is that the number of genes on the mouse X chromosome which escape X inactivation, and thus are expressed at higher levels in females, is very small. However this hypothesis has never been tested and only a small number of genes have been assayed for their X-inactivation status in the mouse. We performed a global expression analysis in four somatic tissues (brain, liver, kidney and muscle) of adult 40,XX and 39,XO mice using the Illumina Mouse WG-6 v1_1 Expression BeadChip and an extensive validation by quantitative real time PCR, in order to identify which genes are expressed from both X chromosomes. We identified several genes on the X chromosome which are overexpressed in XX females, including those previously reported as escaping X inactivation, as well as new candidates. However, the results obtained by microarray and qPCR were
To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases ...
The X-chromosome is found in both females and males. Females have a pair of two XX chromosomes and males have an XY chromosome pair. Both the X and Y chromosome contain relatively little genetic material when seen in view of other chromosomes. They contain repeated parts of DNA; the X-chromosome carrying about 2000 out of the 25000 or so genes, and the Y-chromosome about 78. Females inherit an X-chromosome from the mother and an X-chromosome from the father. Thus, testing this chromosome is crucial when it come to determining relationships between females in DNA relationship testing and the genetic test involves mapping genetic profiles in X-Chromosome Testing. We are all born with 23 pairs of chromosomes, one pair of which are our sex chromosomes. Both males and females have at least one X chromosome in every pair, which is given to them by the mother. Despite the fact we say that we all have a total of 46 chromosomes, there are some chromosomal abnormalities which can lead to people having extra X
Genetic predisposition to testicular germ-cell tumours Testicular germ-cell tumours (TGCT) are the most common neoplasm in young men. Various studies have suggested the existence of an inherited predisposition to development of these tumours. Genome-wide screens subsequently provided evidence of a TGCT susceptibility gene on chromosome Xq27 (TGCT1) that might also predispose to cryptorchism. However, this putative gene has yet to be identified, and other TGCT susceptibility genes probably exist. Completion of the human gene map and advances in genetic research will facilitate further investigation of genetic predisposition to TGCT. Insight into inheritance of TGCT might lead to the identification of individuals at increased risk of developing the disorder, increase our understanding of the mutation pathways that lead to sporadic cases, and contribute to improvement in diagnosis and treatment. Clinicians should record the family history of cancer and urogenital differentiation defects in patients ...
In healthy women with to normal X-chromosomes, the one of the X-chromosomes is switched off (silenced). The X-chromosome which is silenced varies from cell to cell. The silencing is controlled by a part of the X-chromosome designated XIC (X-inactivation center). The inactivation/silencing of the X-chromosome is initiated by a gene named Xist-gene (the X inactivation specific transcript).This gene encodes specific structures so called lincRNAs (long intervening specific transcripts) which are very similar to our genetic material (DNA) but which is not coding for proteins. The final result is that women are X-chromosome mosaics with one X-chromosome from the mother and the other X from the father. However, numerous genes on the X-chromosome escape this silencing process by an unknown mechanism. Approximately two third of the genes are silenced, 15 % avoid silencing and 20 percent are silenced or escape depending on the tissue of origin.. The aforementioned long non-protein-coding parts of our ...
In healthy women with to normal X-chromosomes, the one of the X-chromosomes is switched off (silenced). The X-chromosome which is silenced varies from cell to cell. The silencing is controlled by a part of the X-chromosome designated XIC (X-inactivation center). The inactivation/silencing of the X-chromosome is initiated by a gene named Xist-gene (the X inactivation specific transcript).This gene encodes specific structures so called lincRNAs (long intervening specific transcripts) which are very similar to our genetic material (DNA) but which is not coding for proteins. The final result is that women are X-chromosome mosaics with one X-chromosome from the mother and the other X from the father. However, numerous genes on the X-chromosome escape this silencing process by an unknown mechanism. Approximately two third of the genes are silenced, 15 % avoid silencing and 20 percent are silenced or escape depending on the tissue of origin.. The aforementioned long non-protein-coding parts of our ...
The change in the gene that causes Duchenne/Becker muscular dystrophy (DBMD) happens on the X chromosome. A boy gets an X chromosome from his mother and a Y chromosome from his father. Only the X chromosome can have the changed gene that causes DBMD. Females almost never have DBMD because they have two X chromosomes. Even if a female has one X chromosome with the DBMD gene, her second X chromosome usually will make enough dystrophin to keep her muscles strong.. Because a female can carry (or have) one DBMD mutation and not be affected, she is referred to as a carrier. As a carrier, a female does have a risk of passing the same mutation on to her children. Each son born to a carrier female has a 50% chance of inheriting the DBMD mutation and having MD. Each daughter born to a carrier female instead has a 50% chance of inheriting the DBMD mutation and becoming a carrier like her mother.. Although most males diagnosed with DBMD are known to have inherited the mutation from their mothers, about ...
It can be diagnosed before or immediately after a child is born. In other cases, Klinefelter Syndrome is identified during childhood when learning or behavioural difficulties develop, or around the time of puberty when expected physical changes are delayed or dont happen.. Because the symptoms arent always obvious, an adult might not be diagnosed until they seek medical help for infertility, a loss of sex drive, or a bone fracture. The majority of Klinefelter cases are diagnosed in adulthood.. We think that as many as 75% of men with Klinefelter Syndrome are never diagnosed, and remain untreated for life, possibly because doctors dont routinely check the size of testicles.. ...
The most common variations involve a trisomy, which means three sex chromosomes instead of the typical two. Girls who are born with an extra X chromosome are referred to as having Triple X or Trisomy X. Boys who are born with an extra X chromosome have 47,XXY, also known as Klinefelter syndrome. And boys who are born with an extra Y chromosome have 47,XYY, occasionally referred to as Jacobs syndrome. In addition, there are a number of other X and/or Y conditions including 48 or 49 chromosomes. These include 48,XXXX, 48XXXY, 48XXYY and 48XYYY; and although increasingly rare, also 49XXXXX, 49XXXXY, 49XXXYY, 49XXYYY and 49XYYY. Some individuals may have two cell lines, which is called mosaicism, such as 46,XY/47,XXY.. ...
TY - JOUR. T1 - Differential expression of steroid sulphatase locus on active and inactive human X chromosome. AU - Migeon, Barbara R. AU - Shapiro, Larry J.. AU - Norum, Robert A.. AU - Mohandas, Thuluvancheri. AU - Axelman, Joyce. AU - Dabora, Rebecca L.. PY - 1982. Y1 - 1982. N2 - The X chromosome in mammalian somatic cells is subject to unique regulation - usually genes on a single X chromosome are expressed while those on other X chromosomes are inactivated1. The X-locus for steroid sulphatase (STS; EC 3.1.6.2), the microsomal enzyme that catalyses the hydrolysis of various 3β-hydroxysteroid sulphates, is exceptional because it seems to escape inactivation. Evidence for this comes from fibroblast clones in females heterozygous for mutations that result in a severe deficiency of this enzyme in affected males; all clones from these heterozygotes have STS activity, and enzyme-deficient clones that are expected if the locus were subject to inactivation2, have not been found3. Further evidence ...
The cognitive deficits present in individuals with sex chromosome aneuploidies suggest that hemispheric differentiation of function is determined by an X-Y homologous gene [Crow (1993); Lancet 342:594-598]. In particular, females with Turners syndrome (TS) who have only one X-chromosome exhibit deficits of spatial ability whereas males with Klinefelters syndrome (KS) who possess a supernumerary X-chromosome are delayed in acquiring words. Since spatial and verbal abilities are generally associated with right and left hemispheric function, such deficits may relate to anomalies of cerebral asymmetry. We therefore applied a novel image analysis technique to investigate the relationship between sex chromosome dosage and structural brain asymmetry. Specifically, we tested Crows prediction that the magnitude of the brain torque (i.e., a combination of rightward frontal and leftward occipital asymmetry) would, as a function of sex chromosome dosage, be respectively decreased in TS women and increased in KS
Klinefelter Syndrome is the most common chromosomal syndrome, and occurs in about 1 in 500 live births. The basic male phenotype is set by the Y chromosome: duplication of the X chromosome genes often contributes to a hormonal makeup (hypogonadism) intermediate between XX females and XY males. XXY individuals often have a low serum testosterone level, high serum follicle-stimulating hormone (FSH), and luteinizing hormone (LH) levels. XXY men often have microorchidism (small testicles) and are typically infertile. Physical characteristics vary widely, from a tall, thin, youthful or somewhat feminized physique and facial appearance, to a shorter, rounded body type. Secondary sex-characteristics such as pubic hair patterns are often feminized, and there is often some degree of gynecomastia (female-type breast development), with a significantly higher risk of breast cancer. As with Turner Syndrome (XO females), there is a range of intellectual developmental, with specific psychological impairments ...
Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY. Authors: Nicole R. Tartaglia, MD; Natalie Ayari, BA; Christa Hutaff-Lee, PhD; Richard Boada, PhD. Date of Publication: May 2012. Read more. Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.). ...

Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human...Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human...

Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human ... Pronghorn; Antilocapra americana; Saola; Pseudoryx nghetinhensis; Comparative cytogenetics; Pecora; Phylogeny; Chromosome ...
more infohttps://www.research-collection.ethz.ch/handle/20.500.11850/86423

chromosomes human Protocols and Video...'chromosomes human' Protocols and Video...

Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary ... Chromosomes, Human: Very long DNA molecules and associated proteins, Histones, and non-histone chromosomal proteins ( ...
more infohttps://www.jove.com/keyword/chromosomes+human

chromosomes human x Protocols and Video...'chromosomes human x' Protocols and Video...

Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes ...
more infohttps://www.jove.com/keyword/chromosomes+human+x

Evolution: Library: Human Chromosome 2Evolution: Library: Human Chromosome 2

... chimp chromosome 2 and an extra chromosome that does not match any other human chromosome). Second, a chromosome normally has ... While great apes all have 48 chromosomes (24 pairs), humans have only 46 (23 pairs). If humans and apes shared a common ... First, the banding (or dye pattern) of human chromosome 2 closely matches that of two separate chromosomes found in apes ( ... it explains that humans have one fewer chromosome pair in their cells than apes, due to a mutation found in chromosome number 2 ...
more infohttps://www.pbs.org/wgbh/evolution/library/07/3/l_073_47.html

Human Chromosomes | Orlando J. Miller | SpringerHuman Chromosomes | Orlando J. Miller | Springer

The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The ... "Each word "tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any ...
more infohttps://www.springer.com/gp/book/9780387950310?utm_medium=referral&utm_source=mihe&utm_campaign=3_pier05_ppbuybutton&utm_content=en_09012018

Two Human Chromosomes Entirely Mapped | Science NewsTwo Human Chromosomes Entirely Mapped | Science News

10 SN: Real benefits of virtual therapy, monkey malaria in humans, round electrons disappoint, mouse pups with two dads, bats ...
more infohttps://www.sciencenews.org/archive/two-human-chromosomes-entirely-mapped?mode=magazine&context=742

Category:Human chromosome 10 - Wikimedia CommonsCategory:Human chromosome 10 - Wikimedia Commons

... human chromosome (en) 10. kromozom (tr); Chromosome 10 (human), Chromosome 10 (tl); chr10, kromosom 10 (nn); chr10 (nb); ... Media in category "Human chromosome 10". The following 30 files are in this category, out of 30 total. ... Human chromosome 10 with ASD genes from IJMS-16-06464.png 606 × 1,510; 183 KB. ... Human chromosome 10 from Gene Gateway - with label.png 1,439 × 1,654; 102 KB. ...
more infohttps://commons.wikimedia.org/wiki/Category:Human_chromosome_10

Category:Human chromosome 21 - Wikimedia CommonsCategory:Human chromosome 21 - Wikimedia Commons

Media in category "Human chromosome 21". The following 28 files are in this category, out of 28 total. ... Human chromosome 21 with ASD genes from IJMS-16-06464.png 552 × 634; 81 KB. ... 24-Color 3D FISH Representation and Classification of Chromosomes in a Human G0 Fibroblast Nucleus 10.1371 journal.pbio.0030157 ... Human chromosome 21 - ideogram from NCBI Map viewer.png 320 × 2,040; 3 KB. ...
more infohttps://commons.wikimedia.org/wiki/Category:Human_chromosome_21

human-chromosomeshuman-chromosomes

Be the first to comment on "human-chromosomes". Leave a comment Cancel reply. Email address is optional. If provided, your ... Researchers Use Human Stem Cells to Create Model of the Human Kidney Glomerulus ... MIT Biological Engineers Program Human Cells to Store Complex Histories in Their DNA ... Voyager May Become the First Human-Made Object to Enter Interstellar Space ...
more infohttps://scitechdaily.com/prolific-changes-in-the-human-genome-in-the-past-5000-years/human-chromosomes/

The Human Chromosome 14The Human Chromosome 14

This is the very first version of the Home page for The Human Chromosome 14 Annotation. We plan to improve and update it ... This is the entry point for the updated data for the Human Chromosome 14 Annotation, published as an Advanced Online ... The other participating groups in the Chromosome 14 Project include the Institute for Systems Biology (Seattle, Washington, USA ...
more infohttp://www.genoscope.cns.fr/externe/Download/Projets/Projet_BS/annotation/

Cows with human chromosomes enlisted to fight hantavirus | Science | AAASCows with human chromosomes enlisted to fight hantavirus | Science | AAAS

Researchers have genetically engineered cows to produce human antibodies against the deadly hantavirus and possibly other ... Creating human antibodies in an animal model is no small feat. Scientists combined parts of human chromosome 14 and human ... Cows with human chromosomes enlisted to fight hantavirus. By David Shultz. Nov. 26, 2014 , 2:00 PM. ... The work is preliminary and needs to be tested in people, but the team calls it a "proof-of-concept" that human antibodies can ...
more infohttp://www.sciencemag.org/news/2014/11/cows-human-chromosomes-enlisted-fight-hantavirus?ref=em

Human Chromosome Jewellery Collection by Louise Hughes - 
KickstarterHuman Chromosome Jewellery Collection by Louise Hughes - Kickstarter

A jewellery collection created from the shape of human chromosomes. 3D prints made from microscopy data. ... Louise Hughes is raising funds for Human Chromosome Jewellery Collection on Kickstarter! ... One of these pairs forms the chromosomes that determine our sex, the X and Y chromosomes. Two x chromosomes, XX, gives rise to ... Karyotype 1 has the chromosomes arranged with two xx chromosomes and one y chromosome in the middle, followed by all the other ...
more infohttps://www.kickstarter.com/projects/1627392371/human-chromosome-jewellery-collection

Human Chromosome 11 Blast Server - Wellcome Sanger InstituteHuman Chromosome 11 Blast Server - Wellcome Sanger Institute

Human Chromosome 11 Blast Server. Find out more about wu-blast Retrieve result for BLAST job id:. ... Unfinished human genomic sequence. Unfinished sequence contigs over a 1000 bases.. CpG island sequences. Sequence data from the ... Finished human genomic sequence. Sequence submitted to the EMBL database and all unsubmitted finished sequence.. ... This Blast server searches our DNA database containing all human sequence data available from the Sanger Institute. ...
more infohttp://www.sanger.ac.uk/cgi-bin/blast/submitblast/chr11

Genetic Code Cufflinks : Human Chromosome Jewelry CollectionGenetic Code Cufflinks : Human Chromosome Jewelry Collection

Human Chromosome Jewelry Collection is easily one of the geekiest, if not the geekiest, jewelry sets ever made. Electron ... Human Chromosome Jewelry Collection is easily one of the geekiest, if not the geekiest, jewelry sets ever made. Electron ... The Human Chromosome Jewelry Collection is Inspired by DNA. Michael Hines - February 3, 2014 - Tech ... In addition to creating the Human Chromosome Jewelry Collection, Hughes has also made microscopy art and even a calendar that ...
more infohttps://www.trendhunter.com/trends/human-chromosome-jewelry-collection

The DNA sequence of human chromosome 21.  - PubMed - NCBIThe DNA sequence of human chromosome 21. - PubMed - NCBI

Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic ... The DNA sequence of human chromosome 21.. Hattori M1, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, ... Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) ... Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/10830953?dopt=Abstract

GNN - Chimp and Human Chromosomes Are ComparedGNN - Chimp and Human Chromosomes Are Compared

Scientists have completed the DNA sequence of a chimpanzee chromosome and lined it up side by side the DNA sequence of its ... RIKEN had sequenced human chromosome 21 in 2000 as part of the Human Genome Project. ... More than 98 percent of the DNA on chimp chromosome 22 is present on human chromosome 21. ... Scientists in Japan have completed the DNA sequence of a chimpanzee chromosome and lined it up alongside its human counterpart ...
more infohttp://www.genomenewsnetwork.org/articles/2004/05/27/chimp.php

Human Chromosomes - AMA Manual of StyleHuman Chromosomes - AMA Manual of Style

Human chromosomes are numbered from largest to smallest from 1 to 22. There are 2 additional chromosomes, X and Y. The numbered ... Formalized standard nomenclature for human chromosomes dates from 1960 and, since 1978, has been known as the International ... System for Human Cytogenetic Nomenclature (ISCN). Material in this section is based on recommendations in ISCN 2005. Earlier ... Chromosomes are dark-staining, threadlike structures in the cell nucleus composed of DNA and chromatin that carry genetic ...
more infohttp://www.amamanualofstyle.com/view/10.1093/jama/9780195176339.001.0001/med-9780195176339-div2-419?rskey=6kc7gW&result=1&q=

Human Chromosomes - AMA Manual of StyleHuman Chromosomes - AMA Manual of Style

Human chromosomes are numbered from largest to smallest from 1 to 22. There are 2 additional chromosomes, X and Y. The numbered ... Formalized standard nomenclature for human chromosomes dates from 1960 and, since 1978, has been known as the International ... System for Human Cytogenetic Nomenclature (ISCN). Material in this section is based on recommendations in ISCN 2005. Earlier ... Chromosomes are dark-staining, threadlike structures in the cell nucleus composed of DNA and chromatin that carry genetic ...
more infohttps://www.amamanualofstyle.com/abstract/10.1093/jama/9780195176339.001.0001/med-9780195176339-div2-419?rskey=oXkADe&result=1

Case Westerners Construct First Artificial Human Chromosomes | BioWorldCase Westerners Construct First Artificial Human Chromosomes | BioWorld

BioWorld Online is the news service of record for the biotechnology industry and is updated every business morning. BioWorld Online will keep you up to date on all of the industrys business, science and regulatory news -- mergers and collaborations, FDA hearings and results, breakthroughs in research and much more.
more infohttp://www.bioworld.com/content/case-westerners-construct-first-artificial-human-chromosomes

Localization of Sister Chromatid Exchanges in Human Chromosomes | ScienceLocalization of Sister Chromatid Exchanges in Human Chromosomes | Science

Localization of Sister Chromatid Exchanges in Human Chromosomes Message Subject. (Your Name) has forwarded a page to you from ... The frequency of sister chromatid exchanges among chromosomes correlates with chromosome length. Exchanges appear to occur ... of 33258 Hoechst fluorescence allows microfluorometric analysis of sister chromatid exchanges in human metaphase chromosomes. ... 1Department of Pediatrics and Center for Human Genetics, Harvard Medical School, Clinical Genetics Division, Childrens ...
more infohttp://science.sciencemag.org/content/185/4145/74

Mapping Novel Pancreatic Islet Genes to Human Chromosomes | DiabetesMapping Novel Pancreatic Islet Genes to Human Chromosomes | Diabetes

Mapping Novel Pancreatic Islet Genes to Human Chromosomes. Jorge Ferrer, Jonathon Wasson, Kathleen D Schoor, Michael Mueckler, ... Mapping Novel Pancreatic Islet Genes to Human Chromosomes. Jorge Ferrer, Jonathon Wasson, Kathleen D Schoor, Michael Mueckler, ... Mapping Novel Pancreatic Islet Genes to Human Chromosomes Message Subject (Your Name) has forwarded a page to you from Diabetes ... Sequencetagged sites developed from 19 islet cDNAs were used to map these genes to human chromosomes using a combination of ...
more infohttp://diabetes.diabetesjournals.org/content/46/3/386

Human Chromosomes ( Video ) | Biology
 | CK-12 FoundationHuman Chromosomes ( Video ) | Biology | CK-12 Foundation

Robin Ball explains how the secret lies in X chromosome inactivation. ... Robin Ball explains how the secret lies in X chromosome inactivation. ...
more infohttps://www.ck12.org/c/biology/human-chromosomes/lecture/Secrets-of-The-X-Chromosome/

Molecular structure of human chromosomes | Wellcome CollectionMolecular structure of human chromosomes | Wellcome Collection

Molecular structure of human chromosomes. Credit: Wellcome Collection. Attribution-NonCommercial 4.0 International (CC BY-NC ...
more infohttps://wellcomecollection.org/works/q2qyvy6w/download?sierraId=b1802080x

OpGen, Hitachi Developing Human Chromosome Mapping Analytical Service | GenomeWebOpGen, Hitachi Developing Human Chromosome Mapping Analytical Service | GenomeWeb

OpGen and Hitachi High-Technologies said today they will combine their technologies to develop a comprehensive human chromosome ... OpGen and Hitachi High-Technologies said today they will combine their technologies to develop a comprehensive human chromosome ... include bioinformatic tools to complete a human genome sequence and to detect and analyze structural variations in chromosomes ...
more infohttps://www.genomeweb.com/sequencing/opgen-hitachi-developing-human-chromosome-mapping-analytical-service

The finished DNA sequence of human chromosome 12.The finished DNA sequence of human chromosome 12.

Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. The ... The finished DNA sequence of human chromosome 12.. Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha ... of the human genome. Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments ... Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately ...
more infohttp://www.uniprot.org/citations/16541075
  • Electron microscopist Louise Hughes created cufflinks, earrings, pendants and rings all inspired by the XX, XY and XXY chromosomes inside of our bodies. (trendhunter.com)
  • In addition to creating the Human Chromosome Jewelry Collection, Hughes has also made microscopy art and even a calendar that was sold on her Etsy store. (trendhunter.com)
  • More recent research has propped up Darwin's theory of common descent (also called common ancestry): genome analysis reveals the genetic difference between humans and chimps to be less than 2 percent. (pbs.org)
  • In other words, humans and chimps have DNA sequences that are greater than 98 percent similar. (pbs.org)
  • The other participating groups in the Chromosome 14 Project include the Institute for Systems Biology (Seattle, Washington, USA), the Genome Sequencing Center (Washington University at St. Louis, Missouri, USA) and the Human Genome Organisation . (cns.fr)
  • They do not yet know what effects these changes may have had on the biology of humans or chimpanzees. (genomenewsnetwork.org)
  • I often mention this paradox to my Genetics students and I have searched the literature but I have never found a better explanation nor a statement in a textbook that all of us (humans) are descendants from an incestuous family. (bio.net)
  • Our data provide stable estimates of background TF by age, gender, race, and smoking status and suggest an acceleration of chromosome damage above age 60 and among those with a history of smoking cigarettes. (biomedsearch.com)
  • The following are some of the gene count estimates of human chromosome 1. (wikipedia.org)
  • Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. (uniprot.org)
  • NEW YORK (GenomeWeb News) - OpGen and Hitachi High-Technologies said today they will combine their technologies to develop a comprehensive human chromosome mapping analytical service. (genomeweb.com)
  • People are fascinated by human origins, but it is too early to tell whether we're going to get immediate insights into the things that people are most interested in," says Maynard Olson of the University of Washington in Seattle. (genomenewsnetwork.org)
  • This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. (springer.com)
  • Nor does he suspect that the antibodies would cease to function in humans. (sciencemag.org)
  • These DDX11L2 RNA transcripts are produced in at least 255 different cell types and tissues in humans, highlighting the genes' ubiquitous biological function. (icr.org)
  • HACs are useful in expression studies as gene transfer vectors, as a tool for elucidating human chromosome function, and as a method for actively annotating the human genome. (wikipedia.org)
  • We collected existing data from 16 laboratories in North America, Europe, and Asia on TFs measured in peripheral blood lymphocytes by fluorescence in situ hybridization whole chromosome painting among 1933 individuals. (biomedsearch.com)
  • Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. (biomedsearch.com)
  • The analytical service to be developed will be for clinical research applications, the partners said, and will include bioinformatic tools to complete a human genome sequence and to detect and analyze structural variations in chromosomes. (genomeweb.com)