Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, 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.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.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.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, 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.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, 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.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.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.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.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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.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.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.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.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.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.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.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.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).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.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.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)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).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.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.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.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.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.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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).Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.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.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.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.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.Genetic Variation: Genotypic differences observed among individuals in a population.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.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.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.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.Genes, X-Linked: Genes that are located on the X CHROMOSOME.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).Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Sequence 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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Cell Line: Established cell cultures that have the potential to propagate indefinitely.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.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.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.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.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.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.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.DNA, Neoplasm: DNA present in neoplastic tissue.Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Aurora Kinases: A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.Genes, Insect: The functional hereditary units of INSECTS.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Meiotic Prophase I: The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.Turner Syndrome: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.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.Radiation Hybrid Mapping: A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. (1/415)

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.  (+info)

Interacting populations affecting proliferation of leukemic cells in culture. (2/415)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells.  (+info)

Nonrandom chromosomal abnormalities in hematologic disorders of man. (3/415)

A nonrandom pattern of chromosomal abnormalities occurs in bone marrow cells obtained from patients with hematologic disorders who have an abnormal karyotype involving a C group chromosome. An additional number 8 chromosome is the most common abnormality, found in more than one-half of the patients studies. An additional number 9 chromosome and the loss of all or part of a number 7 are abnormalities that occur more often than might be expected by chance. It is proposed that specific human chromosomal abnormalities may be related to different specific etiologic agents.  (+info)

De novo appearance of the ph-1 chromosome in a previously monosomic bone marrow (45,XX,-6): conversion of a myeloproliferative disorder to acute myelogenous leukemia. (4/415)

Bone marrow examination of a patient with a myeloproliferative disorder revealed monosomy for chromosome No. 6 (45,XX,-6). Two months later, during blastic crisis, reinvestigation of the bone marrow showed the presence of the Ph-1 chromosome in the previously aneuploid cell line (45,XX,-6,-22,+Ph-1). This case differs from those previously published in that the Ph-1 chromosome appeared de novo during the development of frank acute myelogenous leukemia.  (+info)

Removal of abnormal clone of leukaemic cells by splenectomy. (5/415)

A patient with chronic myelocytic leukaemia positive for the Philadelphia (Ph-1) chromosome underwent splenectomy in the "terminal phase" of his disease. Chromosomal analysis of a marrow aspirate obtained during the operation showed nothing abnormal. Material from the spleen, however, showed the absence of a C chromosome and the presence of a "marker" chromosome in all metaphases examined. The patient did well for almost three years after splenectomy, and serial cytogenetic studies of marrow specimens showed the Ph-1 chromosome to be the only significant abnormality. Six months before death from recurrent blastic transformation aneuploidy was found in a marrow specimen. Subsequently additional abnormalities, including cells with two Ph-1 chromosomes, were detected. The karyotypic abnormalities found in the splenic specimen, however, never recurred.  (+info)

Genetics of somatic mammalian cells: genetic, immunologic, and biochemical analysis with Chinese hamster cell hybrids containing selected human chromosomes. (6/415)

Through hybridization of specific Chinese hamster cell auxotrophs with human cells and selection in media lacking the nutritional supplements required by the former cells, a series of stable hybrid clones can be prepared. These hybrids have genomes consisting of a common part--the complete or almost complete set of Chinese hamster chromosomes, plus a variable part--one or a few human chromosomes. The identity of the human chromosomes can be varied by utilizing different Chinese hamster auxotrophs and the appropriate selective media. The human chromosomes present can be determined by a combination of cytogenetic analysis with chromosome banding and testing for specific human marker genes. Hybrids containing single human chromosomes 11 and 12 and the combination of both 11 and 12 are described. The system appears to lend itself to various studies such as identification of human cell surface antigens, determination of their chromosomal loci, measurement of their distribution among cells of normal human tissues, study of interrelations among syntenic and asyntenic genes, and mutational analysis of the human genome.  (+info)

Discordant patterns of chromosome changes and myeloblast proliferation during the terminal phase of chronic myeloid leukemia. (7/415)

A patient with Ph1 positive chronic myeloid leukemia (CML) developed blastic transformation which by morphologic criteria appeared to be localized to the lymphatic system. Chromosome analysis at this time, however, revealed new chromosomal abnormalities in addition to the existing Ph1 in all tissues studied (lymph node, blood, and bone marrow) consisting primarily of extra chromosome numbers 19 and 9 and a second Ph1. Therapy resulted in clinical remission with significant decrease in the aneuploid cell lines. However, these reappeared with recurrence of the blast crisis. Colony formation in semisolid culture of blood and marrow cells at the time of initial blast crisis yielded growth patterns characteristic of CML. On recurrence of the blast crisis after therapy, growth patterns were characteristic of CML in blast crisis or acute myeloblastic leukemia even though blood and marrow still showed relatively low levels of myeloblasts and promyelocytes. Possible explanations are discussed for the disparity in distribution between morphologic and chromosomal abnormalities in this patient.  (+info)

Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. (8/415)

In a series of 841 patients with hematologic disorders, 10 individuals were found to have an extra C group chromosome in their bone marrow cells. In two the extra chromosome was not identified, but in the remaining eight it was No. 8. Four of these ten patients had leukemia, and the others had cytopenias or other probably preleukemic conditions. The mean value for glutathione reductase activity in the red cells of four patients with trisomy 8 was significantly higher (2980 +/- 940 mumoles/min/liter of erythrocytes) than in normal controls (1930 +/- 360) or in any of five different control groups of patients with hematologic disorders. The extent of enzyme activation as a result of preincubation with exogenous flavin adenine dinucleotide was similar in the erythrocytes of all groups. The reasons for the high values of red cell glutathione reductase activity in patients with trisomy 8 are discussed in the light of the proposed assignment of the gene for that enzyme to chromosome 8.  (+info)

Bordelon, M R., "Malignant characteristics of somatic cell hybrids of normal human and malignant mouse cells. Abstr." (1974). Subject Strain Bibliography 1974. 446 ...
Work and education. Oslo university hospital is home to Norways largest team of health professionals. The hospital has a nationwide responsibility for a number of national and multi‐regional assignments and national centres of competence, and carry out more t... ...
Looking for Partial trisomy? Find out information about Partial trisomy. Deviation from a normal haploid, diploid, or polyploid chromosome complement by the presence in excess of, or in defect of, one or more individual chromosomes Explanation of Partial trisomy
A very specific translocation causes Burkitts lymphoma, a cancer that plagues children in equatorial Africa. It involves a DNA break in an immune system antibody gene and the much more rare break in a cancer-promoting gene called c-myc. Previous work had shown that AID was responsible for breaking antibody genes but not c-myc. In fact, scientists thought a host of other factors might be involved in the c-myc break, but AID had been all but ruled out.. Despite the prior studies, Davide Robbiani, a research associate in Nussenzweigs lab and a Leukemia and Lymphoma Society Fellow, believed AID was the culprit. To prove it, he and his colleagues started by deleting the promoter region of the c-myc oncogene, rendering the gene inactive, in a mutant line of mice. By looking for -- and not finding -- the specific translocation in these mice, he showed that c-myc had to be active in order for its DNA break to take place.. He then inserted a DNA tag into the mouse genome that allowed him to induce a ...
Treatments for Chromosome 4, partial trisomy distal 4q including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Researchers at the UC San Diego School of Medicine have pinpointed a mechanism that may help explain how chromosomal translocations - the supposedly random shuffling of large chunks of DNA that frequently lead to cancer - arent so random after all. They have developed a model of such chromosomal mix-ups in prostate cancer which indicates that the male sex hormone (androgen) receptor unexpectedly plays a key role in driving specific translocations in the development of cancer.
This unit provides an introduction to the various types of hybrid panels in use and reviews the status of commercially available panels
Kao, F and Hartz, J A., "Genetic and tumorigenic characteristics of cell hybrids formed in vivo between injected tumor cells and host cells." (1977). Subject Strain Bibliography 1977. 1473 ...
Looking for online definition of pericentric inversion in the Medical Dictionary? pericentric inversion explanation free. What is pericentric inversion? Meaning of pericentric inversion medical term. What does pericentric inversion mean?
In the abnormal myeloma cells several specific translocations have been described that facilitate cell survival. t(4;14) involves expression of the Fibroblast Growth Factor Receptor 3 (FGFR3) in most cases, activation of which initiates intra cellular signalling and activation of anti-apoptotic genes in the myeloma cells. t(11;14) activates the cyclin D1 gene, which promotes the initiation of the cell cycle, enabling myeloma cells to divide and proliferate. Loss of tumour suppressor genes such as Retinoblastoma-1 gene through deletion of chromosome 13q, ongoing p53 mutations and activation of the proto-oncogenes c-Maf through the t(14;16) and C-myc, as well as activation of the anti-apoptosis genes bcl-2 and Mcl1 all result in improved survival advantages for abnormal myeloma cells. ...
Olecular characterization of MAR, a multiple aberration area on human chromosome segment 12q13q15 implicated in a variety of strong tumors. Genes Chromosomes
Six cases of partial duplication-deficiency 21 syndrome: 21(dupq22delp23) due to maternal pericentric inversion: inv(21)(p12;q22). A family study.: Six probands
42 NCCN Guidelines for Patients ® : Myelodysplastic Syndromes, 2018 5 Treatment guide Lower-risk MDS with anemia Lower-risk MDS with anemia Guide 5. Initial treatment for lower-risk MDS with anemia Test results Treatment options del(5q) ± one other chromosome change ª • Lenalidomide No del(5q) ± other chromosome changes, and Serum EPO ≤500 mU/mL ª • Epoetin alfa ± G-CSF, or • Darbepoetin alfa ± G-CSF No del(5q) ± other chromosome changes, and Serum EPO ,500 mU/mL ª If likely to respond to IST: • ATG (equine) + cyclosporine If not likely to respond to IST: • Azacitidine • Decitabine • Consider lenalidomide • Clinical trial Guide 5 shows the treatment options for patients with lower-risk MDS and anemia that is causing symptoms. The options differ based on the types of chromosome changes in the MDS cells and the level of EPO in your blood. One key chromosome change is when MDS cells are missing part of chromosome 5. This change is called del(5q). The amount of natural EPO ...
The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013 ...
Serial chromosome studies were performed on four monocytic cell lines established from bone marrow samples of patients suffering from hematopoietic disorde
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. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
Cromosoma 3 (es); Humán 3-as kromoszóma (hu); 3-я хромосома человека (ru); cromosom dynol 3 (cy); کروموزوم ۳ (fa); Хромозома 3 (bg); kromosom 3 (da); cromozomul uman 3 (ro); 3號染色體 (zh-hk); mänsklig kromosom 3 (sv); Хромосома 3 (uk); Chromosoma 3 (la); 3号染色体 (zh-cn); 3번 염색체 (ko); homa kromosomo 3 (eo); Трет човечки хромозом (mk); Hromosom 3 (bs); cromosoma 3 (it); ৩ নং ক্রোমোজোম (bn); chromosome 3 humain (fr); Kromosom 3 (čovjek) (hr); Kromozom 3 (tr); 3-րդ քրոմոսոմ (hy); cromossoma 3 (pt); 3番染色体 (ヒト) (ja); human chromosome 3 (en); Hromozom 3 (sh); хромозом 3 (sr); Chromosom 3 (de); Kromosomang 3 (tl); chromozom 3 (cs); 3. kromosoom (et); chromosom 3 (pl); humant kromosom 3 (nn); kromosom 3 (nb); Chromosoom 3 (nl); Cromosoma 3 (ca); 3 hō jiám-sek-thé (nan); Kromosomi 3 (fi); כרומוזום 3 (he); Cromosoma 3 (gl); صبغي 3 (ar); ...
DI-fusion, le Dépôt institutionnel numérique de lULB, est loutil de référencementde la production scientifique de lULB.Linterface de recherche DI-fusion permet de consulter les publications des chercheurs de lULB et les thèses qui y ont été défendues.
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016 ...
Olecular characterization of MAR, a many aberration area on human chromosome segment 12q13q15 implicated in many strong tumors. Genes Vasopressin site
Emerson 19 months old Partial Trisomy 18 Parents: Tyson and Terra Garst Omaha, NE Emerson was diagnosed with Partial Trisomy 18q at 17 weeks gestation due to family history of a translocation as well as "soft" signs found on ultrasound (club foot and nuchal fold thickening). Emerson was induced at 40 weeks 2 days and immediately admitted to…… Continue Reading. ...
Lucas diagnosis of Partial Trisomy 13 (PT13) is extremely rare! While the typical human has two chromosomes, an individual with a chromosomal disorder has an extra chromosome (full or partial) present. With Trisomy 13, this extra chromosome causes severe intellectual disability and physical problems. There are 4 variations of Trisomy 13: Full Trisomy 13 -…
Chromosome 9 inversion is when there are two breaks on chromosome 9. The segment between the breakpoints flips around and reinserts back into the same place on chromosome 9. If both breaks occur in the same arm of the chromosome, this is called a paracentric inversion. If one break occurs in the short arm and the other in the long arm of the chromosome, then this is called a pericentric inversion. Chromosome 9 inversions commonly occur as a pericentric inversion ...
Emerson 19 months old Partial Trisomy 18 Parents: Tyson and Terra Garst Omaha, NE Emerson was diagnosed with Partial Trisomy 18q at 17 weeks gestation due to family history of a translocation as well as "soft" signs found on ultrasound (club foot and nuchal fold thickening). Emerson was induced at 40 weeks 2 days and immediately admitted to…… Continue Reading. ...
Treatment for ALL is based on your age, chromosome changes, the subtype of ALL and your overall health. Learn about treatments for acute lymphocytic leukemia.
Chromosome studies may be performed when a child is born with multiple birth defects. They may also be done when people have certain types of leukemias and lymphomas, to look for specific chromosome rearrangements associated with these types of cancers. Direct DNA studies look directly at the gene in question for an error....more ...
T8M, partial trisomy 8, . Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+der(8)
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
We have used recombinant clones derived from microdissection of the fragile X region to characterize breakpoints around the fragile site at Xq27.3. So far, no microdissection markers derived from Xq28 material have been found, thus allowing a rapid screening for clones surrounding the fragile site by their presence in a somatic cell hybrid containing Xq27.2-Xqter. A total of 43 new DNA markers from Xq27 have been sublocalized within this chromosome band. Of these new DNA markers, 5 lie in an interval defined as containing the fragile X region. The saturation of Xq27 with DNA markers by microdissection demonstrates the power of this technique and provides the resources for generating a complete physical map of the region.
View Notes - Lecture03-S11 from BIS 101 at UC Davis. DNA is packaged into chromatin Nucleosome Human Chromosomes (short arm) (long arm) Chromosome Terminology Sister Chromatids Genes (The metaphase
X-linked gene expression in somatic cell hybrids before and after expression of XIST/Xist.(A-C) Shows the XIST/Xist expression in cell nuclei using RNA FISH p
Oracle Health Sciences Omics Data Bank - Version 3.0.1 and laterUnable to Extract Variant into VCF File for a Specific Chromosome Position
Qing K, Ruppert K, Jiang Y, Mata JF, Miller GW, Shim YM, Wang C, Ruset IC, Hersman FW, Altes TA, Mugler JP 3rd. : Regional mapping of gas uptake by blood and tissue in the human lung using hyperpolarized xenon-129 MRI. J Magn Reson Imaging. 39(2): 346-59, February 2014 ...
March is trisomy awareness month, and although many of us never shut up about how amazing our kids are, this month is particularly helpful for highlighting just how far our children and attitudes have come, and still need to go. A chromosomal trisomy is when you have three copies of a specific chromosome instead of…
Schäfer BW، Wicki R، Engelkamp D، Mattei MG، Heizmann CW (1995). "Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomenclature of the S100 calcium-binding protein family". Genomics. 25 (3): 638-43. PMID 7759097. doi:10.1016/0888-7543(95)80005-7. ...
This workflow retrieves all genes on human chromosome 22 that are associated with a disease and aligns the upstream regions with mouse and rat homologues. The alignments are plotted and corresponding sequence ids are also returned ...
First we met with the genetic counselor, who was actually quite nice and very not-scary and she took our family histories for bad DNA, explained the amnio again and then offered us the opportunity to participate in two different studies. One will use our chromosomes to help determine if they can link specific chromosome abnormality to diseases (outside of the big ones they already know about). Theyre talking about super super small defects or irregularities that have to be seen with the microscope. Of course, Id be a dick if I said NO to that - it could provide SERIOUS help to people in the future ...
Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene. In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila fly. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. As HOXA9 dysfunction has been implicated in acute myeloid leukemia, and expression of the gene has been shown to differ markedly between erythrocyte lineages of different stages of development, the gene is of particular interest from a hematopoietic perspective. As HOXA9 is ...
Correspondence: [email protected] Follicular lymphoma (FL) is the second most common type of non-Hodgkin lymphoma (NHL) in Western Countries, accounting for 20% of all NHL and for 70% of all indolent forms, with a median age at diagnosis of about 60 years [1-3]. Before the advent of chemotherapy, the majority of patients with FL died within 5 years. With the current therapies, the expected median survival is approximately 8-10 years [4]. About 85% of FL cases have a specific translocation t(14;18) that leads to the overexpression of the BCL2 protein, a member of a family of anti-apoptotic proteins, although other genetic alterations may be detected in this subtype of lymphoma. As defined by the WHO, FLs are characterized by a follicular growth pattern including centrocytes (small- to medium-sized cells) and centroblasts (large cells), and are graded from I to III according to the amount of centroblasts present. The clinical aggressiveness of the tumor increases with an increasing numbers of ...
Do You Have Chromosome Abnormality Disorders? Join friendly people sharing true stories in the I Have Chromosome Abnormality Disorders group. Find support forums, advice and chat with groups who share this life experience. Chromosome Abnormality Diso...
Chromosome studies. Chromosomes are the threadlike structures of DNA in every cell in our bodies that contain our genes. Cytogenetics is a word used to describe the study of chromosomes. The chromosomes need to be stained in order to see them with a microscope. When stained, the chromosomes look like strings with light and dark bands. A picture (an actual photograph from one cell) of all 46 chromosomes, in their pairs, is called a karyotype. A normal female karyotype is written 46, XX, and a normal male karyotype is written 46, XY. The standard analysis of the chromosomal material evaluates both the number and structure of the chromosomes, with an accuracy of over 99.9 percent. Chromosome analyses are usually performed using a blood sample, prenatal specimen, skin biopsy, or other tissue sample. Chromosomes are analyzed by specially trained healthcare personnel that have advanced degrees in cytogenetic technology and genetics. Chromosome studies may be performed when a child is born with ...
If youre interested in human population genetics, check out this article about a Y chromosome study of British males which suggests most of them can trace their ancestry back to Neolithic farmers who began migrating in successive waves from the Middle East to Europe about 10,000 years ago (8,000 years BCE), finally arriving in the British Isles…
An extra chromosome also called trisomy can cause a wide range of developmental disorders. Learn about trisomy conditions in babies.
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in medical literature.[1] ...
Hospital records and other data relating to Wilmss tumour were analysed to elucidate both thenatural history of the disease and the effects of treatment, with special reference to actinomycin D. The age of maximum incidence was about 18 months; left-sided tumours were significantly more common than right-sided ones.. Prognosis was related to stage of the disease at the initial operation and to the occurrence of metastasis. The three-year survival rate for cases having a nephrectomy was 35%; no child who did not have a nephrectomy survived.. Recurrence of the tumour was observed in two-thirds of the cases, almost always within two years of the initial treatment, irrespective of the childs age. The three-year survival rate for this group was 11%.. The effects of radiotherapy and chemotherapy are considered in detail. Very little improvement in survival rate could be ascribed to actinomycin D. The reasons for this and for the variations found in earlier reports on selected cases are possibly the ...
Prognostic factors for acute lymphocytic leukemia (ALL) include chromosome changes, classification and your age. Learn about prognostic factors for ALL.
I recently suffered a miscarriage. Genetic studies were done indicating that an extra chromosome was present on the #22 chromosome. What does this chromosome determine ...
Regional Mapping of Soil Conditions in Northern Alaska Permafrost Landscape Using AirMOSS and Land Model Data Assimilation, and Associated Impacts on Terrestrial Carbon ...
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Published on 2/1/2010. Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers. 2010 Feb; 14(1):57-65. PMID: 20143912.. Read at: PubMed ...
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... are immortalized cells derived from the fusion of B lymphoblasts with a myeloma fusion partner. Some hybridomas in the ATCC collection are somatic cell hybrids. These cells are capable of producing immunoglobulins that are specific for viral, bacterial or cellular targets.
(1911-1993) British surgeon Born in Enniskillen, now in Northern Ireland, Burkitt attended Dublin University, receiving his BA in 1933 and MB in 1935. Having become a fellow of Edinburgh s Royal College of Surgeons in 1938, Burkitt served in the…
When I open the envelope containing a notice from the Diocese of Oakland that my EX of several years has petitioned for a Declaration of Invalidity, my first reaction is to laugh and toss the paperwork into the recycling bin. But the words toll like solemn bells throughout the day. Ecclesitasticum, Ajudication, Decree of Constitution. In the grip of the language as I had been some twenty years ago when I made the mistake of converting to Catholicism, I retrieve the paperwork.. Read more →. ...
2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825- ... 1988). "The sex-determining region of the human Y chromosome encodes a finger protein". Cell. 51 (6): 1091-104. doi:10.1016/ ... Tricoli JV, Bracken RB (1993). "ZFY gene expression and retention in human prostate adenocarcinoma". Genes Chromosomes Cancer. ... 1990). "Comparison of human ZFY and ZFX transcripts". Proc. Natl. Acad. Sci. U.S.A. 87 (5): 1681-5. doi:10.1073/pnas.87.5.1681 ...
Drosophila flies have both X and Y chromosomes, as well as autosomes. Unlike humans, the Y chromosome does not confer maleness ... Similarity to humans[edit]. A March 2000 study by National Human Genome Research Institute comparing the fruit fly and human ... not because of the presence of a Y chromosome as in human sex determination. Although the Y chromosome is entirely ... The mature larva has giant chromosomes in the salivary glands called polytene chromosomes, "puffs", which indicate regions of ...
"Chromosomes, Chromosome Anomalies". *Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. ... The human genome includes six acrocentric chromosomes: 13, 14, 15, 21, 22 and the Y chromosome. In an acrocentric chromosome ... A chromosome is metacentric if its two arms are roughly equal in length. In a normal human karyotype, five chromosomes are ... Humans do not possess telocentric chromosomes. If the chromosome's centromere is located closer to its end than to its center, ...
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.. *v ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... Secretagogin is a protein that in humans is encoded by the SCGN gene.[5][6] ... "Proteomics and transcriptomics analyses of secretagogin down-regulation in human non-functional pituitary adenomas". Pituitary ...
2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... "Alternative splicing of the LST-1 gene located in the Major Histocompatibility Complex on human chromosome 6". DNA Seq. 8 (3): ... 2002). "Human Dendritic Cells Activate Resting Natural Killer (NK) Cells and Are Recognized via the NKp30 Receptor by Activated ... Yu X, Weissman SM (2000). "Characterization of the promoter of human leukocyte-specific transcript 1. A small gene with a ...
"Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... Iroquois-class homeodomain protein IRX-2, also known as Iroquois homeobox protein 2, is a protein that in humans is encoded by ... 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1999). "Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast". Cell Tissue Res. 296 (3 ...
ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene. The name ELKS is derived ... Genes Chromosomes Cancer. 35 (1): 30-7. doi:10.1002/gcc.10095. PMID 12203787. Wang Y, Liu X, Biederer T, Südhof TC (2002). "A ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... and found an increased rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ... This tall (that chromosome), intelligent (that chromosome again), functionally nonviolent (that chromosome still again) fellow ...
Madani N, Kabat D (Dec 1998). "An endogenous inhibitor of human immunodeficiency virus in human lymphocytes is overcome by the ... Pseudogenes have been identified on chromosomes 2 and 12. The gene has 6 exons and locates at chromosome band 17q12. The human ... Proteasome subunit beta type-3, also known as 20S proteasome subunit beta-3, is a protein that in humans is encoded by the ... Sheehy AM, Gaddis NC, Choi JD, Malim MH (Aug 2002). "Isolation of a human gene that inhibits HIV-1 infection and is suppressed ...
Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the C1orf38 gene. The gene is also known as ICB-1 ... "Chromosome 1 open reading frame 38". Retrieved 2011-12-07. Springwald, A.; Lattrich, C.; Seitz, S.; Ortmann, O.; Treeck, O. ( ... "Icb-1Gene Expression is Elevated in Human Endometrial Adenocarcinoma and is Closely Associated with HER2 Expression". Cancer ... 2009). "Single Nucleotide Polymorphisms in Human Geneicb-1and Breast Cancer Susceptibility". Cancer Investigation. 27 (6): 669- ...
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.. *v ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... Serine/threonine-protein kinase 19 is an enzyme that in humans is encoded by the STK19 gene.[5][6][7] ... Yu CY (1991). "The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and ...
December 2006). "DNA methylation profiling of human chromosomes 6, 20 and 22". Nature Genetics. 38 (12): 1378-85. doi:10.1038/ ...
These mutations involve chromosome translocations which fuse the ETV6 on chromosome 12's the short (i.e. "p") arm ("q" stands ... The human ETV6 gene is located at position "13.2" on the short (i.e. "p") arm of chromosome 12, i.e. its notated position is ... The human ETV6 protein is a member of the ETS transcription factor family; however, it more often acts to inhibit than ... ETV6 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Drosophila anterior open - The ...
2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620). doi:10.1126/science.1083423. PMC 2882961 . "SSMEM1 ... The human mRNA transcript is 1171 bp long with three exons. In humans, SSMEM1 is also referred to as C7orf45. Human SSMEM1 has ... The gene and intron-exon structure were first predicted through analysis of the complete sequence of human chromosome 7, its ... SSMEM1 in humans has three alternative splice variants.[better source needed] In humans, SSMEM1 is highly expressed in the ...
1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Strausberg RL ... MORC family CW-type zinc finger protein 2 is a protein that in humans is encoded by the MORC2 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 ...
1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Nagase T, ... 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
2003). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am. J. Hum. ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Bonaldo MF, ... on human chromosome 22 in the region q11.2→q13.1". Cytogenet. Cell Genet. 61 (3): 180-3. doi:10.1159/000133403. PMID 1424806. ... Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene. Crystallins are separated into two classes: taxon ...
... and also increased sex chromosome disomy by 1.7-fold and chromosome 18 disomy by 2.2-fold. Humans are exposed to perfluorinated ... Exposure to fenvalerate raised sex chromosome disomy 1.9-fold and disomy of chromosome 18 by 2.6-fold (Xia et al., 2004). ... An aneugen is a substance that causes a daughter cell to have an abnormal number of chromosomes or aneuploidy. A substance's ... Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa". Mol. Hum. ...
The Human Protein Atlas. Retrieved 28 February 2014. Thompson DA, Weigel RJ (October 1998). "hAG-2, the human homologue of the ... Agr2 is located on chromosome 7p21, a region that has frequent genetic alterations. It was first identified in estrogen ... Galligan JJ, Petersen DR (July 2012). "The human protein disulfide isomerase gene family". Human Genomics. 6 (1). doi:10.1186/ ... Human AGR2 genome location and AGR2 gene details page in the UCSC Genome Browser. Zhang JS, Gong A, Cheville JC, Smith DI, ...
... and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1". Genomics. 12 (2): 190-6. doi:10.1016/0888-7543(92)90365-Y. PMID ... "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711-5. doi:10.1007/ ... Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is ... "Human PubMed Reference:". "Mouse PubMed Reference:". Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, ...
2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369-74. doi:10.1038/nature02465. PMC 2734081 . ... "Mapping of the shortest region of overlap of deletions of the short arm of chromosome 9 associated with human neoplasia". ... 1984). "Nucleotide sequence and expression in E. coli of a human interferon-alpha gene selected from a genomic library using ... Interferon alpha-4 is a protein that in humans is encoded by the IFNA4 gene. GRCh38: Ensembl release 89: ENSG00000236637 - ...
2006). "The finished DNA sequence of human chromosome 12". Nature. 440 (7082): 346-51. doi:10.1038/nature04569. PMID 16541075. ... OR6C2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Olfactory receptor 6C2 is a protein that in humans is encoded by the OR6C2 gene. Olfactory receptors interact with odorant ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: OR6C2 olfactory receptor, family 6, subfamily C, member 2". ...
2006). "The finished DNA sequence of human chromosome 12". Nature. 440 (7082): 346-51. doi:10.1038/nature04569. PMID 16541075. ... Human LCA10 genome location and LCA10 gene details page in the UCSC Genome Browser. Bonaldo MF, Lennon G, Soares MB (1997). " ... Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human CEP290 genome location and CEP290 gene details page in the UCSC ...
"Isolation and regional assignment of human chromosome 12p cDNAs". Genomics. 29 (1): 44-52. doi:10.1006/geno.1995.1213. PMID ... Protein bicaudal D homolog 1 is a protein that in humans is encoded by the BICD1 gene. This gene is one of two human homologs ... "Human PubMed Reference:". "Mouse PubMed Reference:". Baens M, Marynen P (Nov 1997). "A human homologue (BICD1) of the ... Human BICD1 genome location and BICD1 gene details page in the UCSC Genome Browser. Barr FA, Short B (Aug 2003). "Golgins in ...
2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369-74. doi:10.1038/nature02465. PMC 2734081 . ... Programmed cell death 1 ligand 2 (also known as PD-L2, B7-DC) is a protein that in humans is encoded by the PDCD1LG2 gene. ... He XH, Liu Y, Xu LH, Zeng YY (2004). "Cloning and identification of two novel splice variants of human PD-L2". Acta Biochim. ... 2006). "No evidence for dualism in function and receptors: PD-L2/B7-DC is an inhibitory regulator of human T cell activation". ...
Human chromosome 2 resulted from a fusion of two ancestral chromosomes that remained separate in the chimpanzee lineage. " The ... Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... 大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體皆含
The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on ... See also: Category:Genes on human chromosome 6. The following is a partial list of genes on human chromosome 6. For complete ... The following are some of the genes located on p-arm (short arm) of human chromosome 6: ADTRP: encoding protein Androgen- ... October 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ...
Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): ... The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of ...
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... male-specific Y chromosome].1 As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference ... New Chromosome Research Undermines Human-Chimp Similarity Claims. Institution for Creation Research ^ , Apr 1, 2010 , Jeffrey ...
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... Human-Chimp Genetic Similarity: Is the Evolutionary Dogma Valid? * New Human-Chimp Chromosome 2 Data Challenge Common Ancestry ... within the chimpanzee Y chromosome had less than 10 percent similarity with the same class in the human Y chromosome, and vice ...
1 This supposedly explains the difference in chromosome numbers between humans and great apes-humans have 46 chromosomes, while ... Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. ... "chromosome 2 fusion." This story proposes that in a common ancestor shared by humans and chimps, two small chromosomes somehow ... The chromosome 2 fusion model of human evolution-part 2: re-analysis of the genomic data. Journal of Creation. 25 (2): 111-117. ...
... ape-like chromosomes in a human-ape ancestor that joined in the distant past and formed human chromosome 2. This idea was first ... Humans and great apes differ in chromosome numbers-humans have 46 while apes have 48. The difference is claimed to be due to ... Gene Content and Function of the Ancestral Chromosome Fusion Site in Human Chromosome 2q13-2q14.1 and Paralogous Regions. ... Origin of human chromosome 2: an ancestral telomere-telomere fusion. Proceedings of the National Academy of Sciences. 88 (20): ...
14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412 6 including work step by step written by community ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412. 6 ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412: 6. ... Forensics Lab - Pre-Lab - Using DNA to Identify Human Remains * Assessment - 14.1 Human Chromosomes - Understand Key Concepts/ ...
... production of beta-globin locus YAC mice carrying human globin developmental mutants. K R Peterson, Q L Li, C H Clegg, T ... To test whether yeast artificial chromosomes (YACs) can be used in the investigation of mammalian development, we analyzed the ... Use of yeast artificial chromosomes (YACs) in studies of mammalian development: production of beta-globin locus YAC mice ... Use of yeast artificial chromosomes (YACs) in studies of mammalian development: production of beta-globin locus YAC mice ...
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. P S White, J M Maris, C Beltinger, E ... Deletion of the short arm of human chromosome 1 is the most common cytogenetic abnormality observed in neuroblastoma. To ... A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3 ... A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3 ...
Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. The ... What kinds of binary mosaics are generated by means of the described method for all 23 pairs of human chromosomes, the data for ... Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. The ... Also, we tested the first 15,000,000 nucleotides of every human chromosome from the mentioned website. Structures of 2- ...
Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and ... MW 1999Population growth of human Y chromosomes: A study of Y chromosome microsatellites.Mol Biol Evol1617911798PubMedGoogle ... 2000Y chromosome sequence variation and the history of human populations.Nat Genet26358361CrossRefPubMedGoogle Scholar ... The human Y chromosome, disease and selection.Trends Genet16356362CrossRefPubMedGoogle Scholar ...
The largest number of multiple sex chromosomes in vertebrates known today is found in the monotreme... ... Heteromorphic sex chromosomes are common in eukaryotes and largely ubiquitous in birds and mammals. ... Annu Rev Genom Human Genet 12(1):391-406. https://doi.org/10.1146/annurev-genom-082410-101518 CrossRefGoogle Scholar ... 22 chromosomes. Males exhibited an astonishing stable ring-shaped meiotic chain composed of six X and six Y chromosomes. The ...
3. Encourage students to invert a chimp chromosome and place it next to the corresponding human chromosome, alining their ... Human Evolution Patterns. SEE "Chromosome Connections: Compelling Clues to Common Ancestry". Article by Larry Flammer published ... CHROMOSOME FUSION. This is a logical extension of any chromosome comparison lab. Students test the hypothesis that our ... and less on the details of chromosome analysis, and also involves students in doing a chromosome by chromosome matching by ...
HUMAN HEREDITY presents the concepts of human genetics in clear, concise language and provides relevant examples that you can ... Karyotypes and Chromosome Aberrations. 7. Development and Sex Determination. 8. The Structure, Replication, and Chromosomal ... Human Heredity: Principles and Issues / Edition 9. HUMAN HEREDITY presents the concepts of human genetics in clear, concise ... Empowerment Series: Understanding Human Behavior and the Social Zastrow and Kirst-Ashmans UNDERSTANDING HUMAN BEHAVIOR AND THE ...
Chromosomes and Human Inheritance. 13. DNA Structure and Function. 14. From DNA to Protein. 15. Controls Over Genes. 16. ... 6. Ground Rules of Metabolism. 7. Where It Starts?Photosynthesis. 8. How Cells Release Chemical Energy. Unit II: PRINCIPLES OF ...
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... See also: Category:Genes on human chromosome 8. The following is a partial list of genes on human chromosome 8. For complete ... "Chromosome 8". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 8". Human Genome Project Information Archive 1990- ... G-banding ideograms of human chromosome 8 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ...
6-bisphosphate as well as fructose-1,6-bisphosphate (PubMed:19015259). Acts as a negative regulator of glycolysis by lowering ... intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway ( ... Human chromosome 12: entries, gene names and cross-references to MIM. *MIM cross-references. Online Mendelian Inheritance in ... "Regulatory role of p53 in cancer metabolism via SCO2 and TIGAR in human breast cancer.". Won K.Y., Lim S.J., Kim G.Y., Kim Y.W. ...
Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6- ... Human chromosome 12: entries, gene names and cross-references to MIM. *Human entries with polymorphisms or disease mutations. ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ... COQ5_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are stable ...
Chromosome 6 ... Isoform 2 of Collagen alpha-1(XII) chain. HUMAN. 1899. UniRef90 ... tr,A0A087X0A8,A0A087X0A8_HUMAN Collagen alpha-1(XII) chain OS=Homo sapiens OX=9606 GN=COL12A1 PE=1 SV=1 ... A0A087X0A8_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are ... Collagen alpha-1(XII) chainImported. ,p>Information which has been imported from another database using automatic procedures.,/ ...
Human chromosome 12: entries, gene names and cross-references to MIM *MIM cross-references. Online Mendelian Inheritance in Man ... "Human Kv1.6 current displays a C-type-like inactivation when re-expressed in cos-7 cells.". Guihard G., Bellocq C., Grelet E., ... "Human Kv1.6 current displays a C-type-like inactivation when re-expressed in cos-7 cells.". Guihard G., Bellocq C., Grelet E., ... KCNA6_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are stable ...
Nine KOX zinc finger genes were localized on four human chromosomes by in situ hybridization of cDNA probes to metaphase ... chromosomes. KOX1 (ZNF10), KOX11 (ZNF18), and KOX12 (ZNF19) were mapped to chro ... Zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Genomics 13:999-1007Google Scholar ... Nine KOX zinc finger genes were localized on four human chromosomes by in situ hybridization of cDNA probes to metaphase ...
Previously, with the exception of the Paleoafrican Y-chromosome clades A and B, all other human Y chromosomes fell into three ... Use of Y Chromosome and Mitochondrial DNA Population Structure in Tracing Human Migrations. Underhill PA, Kivisild T.. Well- ... Tracing Human Migrations with Y chromosomes and mtDNA (new Underhill/Kivisild paper) ... Human genetic variation: the first 50 dimensions. Human genetic variation: 124+ clusters with the Galore approach. How Y-STR ...
New Research Debunks Human Chromosome Fusion. Acts & Facts. 42 (12): 9.. * Mr. Thomas is Science Writer at the Institute for ... Alleged Human Chromosome 2 "Fusion Site" Encodes an Active DNA Binding Domain Inside a Complex and Highly Expressed Gene- ... This allegedly explained why the chimpanzee genome has one more chromosome than humans. However, a new analysis found none of ... Debunking the third and last major pillar involved refuting the longstanding suggestion that human chromosome 2 has a fusion ...
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.. *v ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... Secretagogin is a protein that in humans is encoded by the SCGN gene.[5][6] ... "Proteomics and transcriptomics analyses of secretagogin down-regulation in human non-functional pituitary adenomas". Pituitary ...
2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... "Alternative splicing of the LST-1 gene located in the Major Histocompatibility Complex on human chromosome 6". DNA Seq. 8 (3): ... 2002). "Human Dendritic Cells Activate Resting Natural Killer (NK) Cells and Are Recognized via the NKp30 Receptor by Activated ... Yu X, Weissman SM (2000). "Characterization of the promoter of human leukocyte-specific transcript 1. A small gene with a ...
  • 12. Genes and Cancer. (barnesandnoble.com)
  • Genes Chromosomes Cancer. (wikipedia.org)
  • The results show for the first time that Brachyury expression is enhanced during TGF-β1-induced EMT in various human cancer cell lines, and that a positive feedback loop is established between Brachyury and TGF-β1 in mesenchymal-like tumor cells. (aacrjournals.org)
  • Brachyury overexpression has been shown to drive EMT and to enhance the migratory and invasive features of human cancer cells in vitro , while promoting their metastatic dissemination in vivo ( 22, 23 ). (aacrjournals.org)
  • Human mRNA transcripts were identified through two large scale cDNA cloning efforts, an American effort run out of the Dana-Farber Cancer Institute and Harvard Medical School, and full-length long Japan effort. (wikipedia.org)
  • In Xenopus AGR2 plays a role in cement gland differentiation, but in human cancer cell lines high levels of AGR2 correlate with downregulation of the p53 response, cell migration, and cell transformation. (wikipedia.org)
  • For example, acute lymphoblastic leukemia (a type of blood cancer most often diagnosed in childhood) has been associated with a translocation between chromosomes 12 and 21. (wikipedia.org)
  • The dominant route of DHT synthesis in human CRPC bypasses testosterone, and instead requires 5α-reduction of androstenedione by SRD5A1 to 5α-androstanedione, which is then converted to DHT fuelling cancer growth. (wikipedia.org)
  • RPN2 has been demonstrated to be a prognostic marker of human cancer, and may be a potential target of clinical importance. (wikipedia.org)
  • Additionally, the Hepatitis B virus (HBV) and HPV-16 virus, the strain of human papilloma virus most likely to produce cancer, appear to integrate preferentially in or around fragile sites, and it has been proposed that this is crucial to the development of tumors. (wikipedia.org)
  • It is only recently that a phase chromosomes are structurally not homo- molecular view of the meiotic cell division is geneous through their length, a new world was beginning to emerge: chapter ten refers to human in the offing. (indigo.ca)
  • Alonso, S, Armour, JA 2001 A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outside Africa. (springer.com)
  • this step is when the fructose 1,6-bisphosphate molecule breaks down into two molecules of dihydroxyacetone phosphate (DHAP), so from this point on whenever ATP is being generated from ADP there are really two ATP molecules generated because there are two molecules undergoing the same reaction. (wikipedia.org)
  • Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O, Thomas G, Jong P de, Julien JP, Rouleau GA (1992) Cloning of six new genes with zinc fingers motifs mapping to short and long arms of human acrocentric chromosomes 22 (p and q11.2). (springer.com)
  • Even if you assume an evolutionary timeline of up to six million years since the fusion event occurred, the data do not match up with known mutation rates or the variability found in human DNA. (icr.org)
  • In this paper, we show that mismatch distributions and tests of mutation/drift equilibrium based on up to 166 Y-chromosome SNPs, in 46 samples from all continents, also fail to support an increase of the male effective population size. (springer.com)
  • Characteristics of this human disease are associated with transgenes and other mutation types in the mouse. (jax.org)
  • there will, of course, be lingering uncertainty of parameters such as generation length, but Y chromosome mutation rates are likely to become very secure once full genome sequencing becomes so cheap that it can be applied to a number of father-son pairs. (blogspot.com)
  • The mutation is found on the Y chromosome at position 20104736. (wikipedia.org)
  • BMS-936564/MDX-1338: a fully human anti-CXCR4 antibody induces apoptosis in vitro and shows antitumor activity in vivo in hematologic malignancies. (nih.gov)
  • Elafin, the skin-derived elastase inhibitor, has been shown to be a potent and specific inhibitor of both the porcine homolog of ELA1 and human leukocyte elastase in vitro. (wikipedia.org)
  • This is due to demonstrated interactions with human AP endonuclease, though interactions between recombinant CSB and E. coli endonuclease IV as well as human N-terminus AP endonuclease fragments have not been observed in vitro. (wikipedia.org)
  • Our laboratory showed that Brachyury ( 16-18 ), a molecule crucial for mesoderm differentiation, is overexpressed in a variety of human tumor tissues and cell lines but rarely found in normal adult tissues ( 19-21 ). (aacrjournals.org)
  • Forensic differentiation between peripheral and menstrual blood in cases of alleged sexual assault-validating an immunochromatographic multiplex assay for simultaneous detection of human hemoglobin and D-dimer. (nih.gov)
  • Unfortunately, in both main fish models, the pufferfish ( Takifugu rubripes ) and the zebrafish ( Danio rerio ), no information exists on the mode of sex determination, the potential presence of sex chromosomes, and the process of sex differentiation. (pnas.org)
  • ERCC6 knockout within human neural progenitor cells has been shown to decrease both neurogenesis and neural differentiation. (wikipedia.org)
  • One of the leading arguments used to support the concept that apes-particularly chimpanzees-and humans descended from a common ancestor is the "chromosome 2 fusion model. (icr.org)
  • 6-month dietary vitamin E (VE) deficiency in rats resulted in a twofold increase in the mRNA level of SRD5A1 gene and a twofold decrease in the mRNA level of GCLM gene but is not directly mediated by changes in promoter DNA methylation. (wikipedia.org)
  • Detection of trisomy 12 on ovarian sex cord stromal tumors by fluorescence in situ hybridization . (humpath.com)