Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, 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.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 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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 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.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.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, 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.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.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.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).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.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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.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)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.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).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.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.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.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.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.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.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.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)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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Abnormalities, MultiplePolytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.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)Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.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.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.Interphase: The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).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.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.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.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.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.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.Genetic Variation: Genotypic differences observed among individuals in a population.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.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)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.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.Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.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.)Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.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.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).Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.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.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.Genes, X-Linked: Genes that are located on the X CHROMOSOME.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, 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.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.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.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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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).Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.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.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.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)Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Ploidies: The degree of replication of the chromosome set in the karyotype.Homozygote: An individual in which both alleles at a given locus are identical.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.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.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.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.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.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)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)Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.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.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.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.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.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)Genes, Bacterial: The functional hereditary units of BACTERIA.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.DNA, Neoplasm: DNA present in neoplastic tissue.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.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.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.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.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.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.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.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Genes, 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.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.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.Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.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)Genes, Insect: The functional hereditary units of INSECTS.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.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.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)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.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.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)DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Sex Chromosome Disorders of Sex Development: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
FISH analysis is then used to confirm the identity of the chromosome. Karyotypes are commonly analyzed using Giemsa banding (G- ... The mole cricket chromosome number varies between 19 and 23 chromosomes depending on the part of the world in which they are ... In the fruit fly, Drosophila, one X chromosome in the male is almost the same as two X chromosomes in the female in terms of ... Polysomy of chromosomes 1, 2, 4, 5, and 25 are also frequently involved in canine tumors. Chromosome 1 may contain a gene ...
2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... Genes Chromosomes Cancer. 35 (4): 311-7. doi:10.1002/gcc.10121. PMID 12378525. Gururaj AE, Singh RR, Rayala SK, Holm C, den ... Genes Chromosomes Cancer. 35 (4): 311-7. doi:10.1002/gcc.10121. PMID 12378525. Strausberg RL, Feingold EA, Grouse LH, et al. ( ...
R.N. Shukla (2014-06-30). Analysis of Chromosomes. ISBN 9789384568177. Berg JM; Tymoczko JL; Stryer L (2002). Biochemistry (5th ... Analysis of these RNAs has revealed that they are highly structured. Unlike DNA, their structures do not consist of long double ... There are many long noncoding RNAs that regulate genes in eukaryotes, one such RNA is Xist, which coats one X chromosome in ... Heard E; Mongelard F; Arnaud D; Chureau C; Vourc'h C; Avner P (1999). "Human XIST yeast artificial chromosome transgenes show ...
2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... Genes Chromosomes Cancer. 36 (1): 48-56. doi:10.1002/gcc.10141. PMID 12461749. Strausberg RL, Feingold EA, Grouse LH, et al. ( ... 2000). "Use of representational difference analysis and cDNA arrays for transcriptional profiling of tumor tissue". Ann. N. Y. ... 1997). "Molecular cloning and expression analysis of rat Rgs12 and Rgs14". Biochem. Biophys. Res. Commun. 233 (3): 770-7. doi: ...
Loss of heterozygosity
In UPD, a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other ... Allelic dosage analysis with genotyping microarrays. Biochem Biophys Res Commun. 2005 Aug 12;333(4):1309-14. Lo KC, Bailey D, ... because there still is one functional gene left on the other chromosome of the chromosome pair. The remaining copy of the tumor ... Genes Chromosomes Cancer. 2008 Mar;47(3):221-37. Tucker AE, Ackerman MA, Eads BD, Xu S, Lynch M. Population-genomic insights ...
Tetratricopeptide repeat 39A
The gene for TTC39A is located on the first chromosome at 1p32.3. The genomic DNA is 57,859 bases long, consists of 19 exons ... ". "Large-scale analysis of the human transcriptome (HG-U133A". Woodfield GW, Chen Y, Bair TB, Domann FE, Weigel RJ (October ... The gene for KIAA0452 is also located on the first chromosome at 1p32.3. The genomic DNA is 34,096 bases long, consists of 11 ... 2010). "Identification of primary gene targets of TFAP2C in hormone responsive breast carcinoma cells". Genes Chromosomes ...
Comparative genomic hybridization
64'000 arrays, September 2014). NCBI's Cancer Chromosomes: Cancer Chromosome is an integral part of NCBI's Entrez system, which ... Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo W-L, Chen C, Zhai Y (1998) High resolution analysis ... Genes, Chromosomes and Cancer 10:231-243. Solinas‐Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, Cremer T ... A higher intensity of the test sample colour in a specific region of a chromosome indicates the gain of material of that region ...
Kim IS, Oh SY, Choi SJ, Kim JH, Park KH, Park HK, Kim JW, Ki CS (2007). "Clinical and genetic analysis of HLXB9 gene in Korean ... "A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36". Genomics. 57 (3): 342-51. doi:10.1006 ... Köchling J, Karbasiyan M, Reis A (2001). "Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome". Eur. J ... "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene". Am. J. Hum. Genet. 66 (5): 1504-15. doi: ...
Ewing sarcoma breakpoint region 1
RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22. This gene encodes a ... Bhagirath T, Abe S, Nojima T, Yoshida MC (1995). "Molecular analysis of a t(11;22) translocation junction in a case of Ewing's ... "Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region". Genomics. 38 (3): 247-54. doi: ... "Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours". Nature. 359 (6391): 162-5. doi ...
1998). "Chromosome translocation based on illegitimate recombination in human tumors". Proc. Natl. Acad. Sci. U.S.A. 95 (20): ... Bhagirath T, Abe S, Nojima T, Yoshida MC (1995). "Molecular analysis of a t(11;22) translocation junction in a case of Ewing's ... Rao VN, Ohno T, Prasad DD, Bhattacharya G, Reddy ES (August 1993). "Analysis of the DNA-binding and transcriptional activation ... Rao VN, Ohno T, Prasad DD, Bhattacharya G, Reddy ES (August 1993). "Analysis of the DNA-binding and transcriptional activation ...
2006). "Analysis of the candidate tumor suppressor Ris-1 in primary human breast carcinomas". Mutat. Res. 594 (1-2): 78-85. doi ... 2006). "Target genes of the WNT/beta-catenin pathway in Wilms tumors". Genes Chromosomes Cancer. 45 (6): 565-74. doi:10.1002/ ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
2004). "Mutational analysis of susceptibility genes RNASEL/HPC1, ELAC2/HPC2, and MSR1 in sporadic prostate cancer". Genes ... Chromosomes Cancer. 39 (2): 119-25. doi:10.1002/gcc.10308. PMID 14695991. Hillman RT, Green RE, Brenner SE (2005). "An ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
2004). "cDNA microarray analysis reveals an overexpression of the dual-specificity MAPK phosphatase PYST2 in acute leukemia". ... Genes Chromosomes Cancer. 39 (1): 37-47. doi:10.1002/gcc.10295. PMID 14603440. Levy-Nissenbaum O, Sagi-Assif O, Raanani P, et ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
... chromosome 22 rearrangements in astrocytic tumors identified using microsatellite and chromosome 22 tile path array analysis". ... It is encoded by a gene of the same name, located on chromosome 22. The function of DEPDC5 is not yet known, but it has been ... DEPDC5 expression has been characterized as ubiquitous in human tissue by RT-PCR analysis and in DNA microarray studies as ... The following table summarizes an analysis of 20 proteins orthologous to human DEPDC5. 30 residues have been conserved since ...
Mir-340 microRNA precursor family
Mir-584 microRNA precursor family
Mir-423 microRNA precursor family
Mir-885 microRNA precursor family
... andJUNare dysregulated among other genes by miRNAs in malignant mesothelioma-A miRNA microarray analysis". Genes, Chromosomes ... It is found at 3p25.3, a chromosome region frequently deleted in primary neuroblastoma, and expression results in p53 protein ... including the CDK2 and MCM5 genes encoding cyclin-dependent kinase 2 and mini-chromosome maintenance protein MCM5, and also ...
Mir-202 microRNA precursor family
Mir-32 microRNA precursor family
Mir-939 microRNA precursor family
Mir-605 microRNA precursor family
"Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient ... chromosome 1) to smallest (chromosome 22), with the sex chromosomes (X and Y) shown last. Historically, karyotypes have been ... These include: A translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, occurs in about 20% of adult ... Gains on chromosomes 6 and 8 are often used to refine the predictive value of the Monosomy 3 screen, with gain of 6p indicating ...
Sanchez-Cespedes M, Okami K, Cairns P, Sidransky D (Mar 2000). "Molecular analysis of the candidate tumor suppressor gene ING1 ... Garkavtsev I, Demetrick D, Riabowol K (Jul 1997). "Cellular localization and chromosome mapping of a novel candidate tumor ... ING1 is located near the following genes on Chromosome 13 CARKD Carbohydrate Kinase Domain-Containing Protein (Unknown Function ... "Localization of the candidate tumor suppressor gene ING1 to human chromosome 13q34". Somatic Cell and Molecular Genetics. 23 (3 ...
Cell-free fetal DNA
Sex chromosomes Analysis of maternal serum cffDNA by high-throughput sequencing can detect common fetal sex chromosome ... If analysis of cffDNA obtained from a sample of maternal plasma lacks genetic markers found only on the Y chromosome, it is ... maternal chromosomes may have mosaicism. A number of fetal nucleic acid molecules derived from aneuploid chromosomes can be ... sampling of maternal plasma for analysis of cffDNA is without risk. The main targets in the cffDNA analysis are the gene ...
It has a chromosome count: 2n=20. It was counted in June 1956, I. gatesii, Iris susiana, Iris lortetii, and Iris sofarana were ... Mitra, Jyotirmay (June 1956). "Karyotype Analysis of Bearded Iris". Botanical Gazette. 117 (4): 265-293. doi:10.1086/335916. ... As most irises are diploid, having two sets of chromosomes, this can be used to identify hybrids and classification of ... Avishai, Michael; Zohary, Daniel (1977). "Chromosomes in the Oncocyclus Irises". Botanical Gazette (Bot. Gaz). 138 (4): 502-511 ...
Ariosa v. Sequenom
And each case seems to present a new low in terms of the depth and quality of analysis." She sees a common thread in these ... which can be detected by observing presence of extra chromosomes. The inventors now had a test that did not require ... Noonan concedes that the type of analysis described in Flook "may make sense in claims to" electromechanical inventions such as ... The overbreadth of the Federal Circuit's analysis threatens diagnostic methods across the board. If a method of detecting a ...
人類基因組 - 维基百科，自由的百科全
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50-62. doi:10.1002/tera.10009. PMID ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
Quantitative trait locus
Analysis of variance. The simplest method for QTL mapping is analysis of variance (ANOVA, sometimes called "marker ... These QTLs are often found on different chromosomes. The number of QTLs which explain variation in the phenotypic trait ... INTERSNP - a software for genome-wide interaction analysis (GWIA) of case-control SNP data and analysis of quantitative traits ... The method makes use of a genetic map of the typed markers, and, like analysis of variance, assumes the presence of a single ...
It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... "Evolutionary analysis of Arabidopsis, cyanobacterial, and chloroplast genomes reveals plastid phylogeny and thousands of ... The new cpDNA structures separate, creating daughter cpDNA chromosomes. In addition to the early microscopy experiments, this ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ...
Unisex public toilet
Darwin Medal - Simple English Wikipedia, the free encyclopedia
In recognition of his leadership in the study of genome analysis with the potential to have a profound impact on the whole of ... separate sexes and sex chromosomes, segregation distortion and repetitive DNA. ... In recognition of his analysis of pattern formation during insect segmentation, and of his contribution to understanding how ... characterised by the application of sophisticated mathematical analysis but focussed on developing biological understanding ...
This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. *v ... 2007). "Proteomic analysis of human very low-density lipoprotein by two-dimensional gel electrophoresis and MALDI-TOF/TOF". ... "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A ... "Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus". J. Infect. Dis. 201 (9): 1371-80. doi ...
Abortion - Simple English Wikipedia, the free encyclopedia
For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... Pauli E, Haller U, Zimmermann R (2005). "Morbidity of dilatation and evacuation in the second trimester: an analysis" (in ... When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... Most embryos and fetuses with chromosome problems will not live for a long time. They die very early. There are a few ...
... in males with normal chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. ... Gupta, R.S.; Chan, D.H.Y.; Siminovitch, L. (1978). "Evidence obtained by segregation analysis for functional hemizygosity at ... A chromosome in a diploid organism is hemizygous when only one copy is present. The cell or organism is called a hemizygote ... Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each ...
... replication of the chromosome involves about 2 million DNA synthesis reactions for each arm of the chromosome over 40 to 80 min ... "The diversity and evolution of cell cycle regulation in alpha-proteobacteria: A comparative genomic analysis". BMC Systems ... Chromosome replication and cell division only occurs in the stalked cell stage. Its name derives from its crescent shape caused ... The Caulobacter CB15 genome has 4,016,942 base pairs in a single circular chromosome encoding 3,767 genes. The genome ...
A Brdu analysis showed that excess testosterone did not increase this blocking effect against social isolation; that is, the ... In males, certain Y chromosome genes, particularly SRY, control development of the male phenotype, including conversion of the ... Analysis showed that testosterone and dihydrotestosterone regulated adult hippocampal neurogenesis (AHN). Adult hippocampal ...
... analysis of control region haplotypes of the mitochondrial DNA and sex chromosomes from Mexican wolves, a critically endangered ... because the red fox has 34 metacentric chromosomes and from 0 to 8 small B chromosomes, the raccoon dog has 42 chromosomes ... DNA analysis consistently shows that all existing red wolves carry coyote genes. This has caused a problem for Canid taxonomy, ... Analysis on the haplotype of some coyotes from Texas also detected the presence of male wolf introgression such as Y ...
These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... The SNP analysis of the haplotype suggests a potential founding affect of 20,000 years within Europe, though conflicts in ... These chromosome chimerize within the reproductive cells of each parent which are then passed to the developing person during ... Castaño-Rodríguez N, Diaz-Gallo LM, Pineda-Tamayo R, Rojas-Villarraga A, Anaya JM (February 2008). "Meta-analysis of HLA-DRB1 ...
These tumors show a high frequency of co-deletions of the p and q arms of chromosome 1 and chromosome 19 respectively (1p19q co ... a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545-1602. doi:10.1016/S0140-6736(16) ... a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459-1544. doi:10.1016/S0140-6736(16) ... A uni-multivariate statistical analysis in 76 surgically treated adult patients". Surgical Neurology. 44 (3): 208-21, ...
The number of homologous chromosome sets varies from four (n=4) in some Physaria and Stenopetalum species, five (n=5) in other ... It has long been clear that the Aethionema are sister of the remainder of the family. One analysis from 2014 represented the ... Early DNA-analysis showed that the Capparaceae-as defined at that moment-were paraphyletic, and it was suggested to assign the ... Current insights in the relationships of the Brassicaceae, based on a 2012 DNA-analysis, are summarized in the following tree.[ ...
Another name used is alpha-1 proteinase inhibitor (α1-PI). The gene is located on the long arm of the fourteenth chromosome ( ... Kolarich D, Weber A, Turecek PL, Schwarz HP, Altmann F (June 2006). "Comprehensive glyco-proteomic analysis of human alpha1- ... Mahr AD, Neogi T, Merkel PA (2006). "Epidemiology of Wegener's granulomatosis: Lessons from descriptive studies and analyses of ... and glycoproteomic analyses of alpha(1)-proteinase inhibitor products used for replacement therapy". Transfusion. 46 (11): 1959 ...
Griffiths AJ, Miller JH, Suzuki DT, Lewontin RC, Gelbart WM (1999). An introduction to genetic analysis. New York: W. H. ... By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... Historical analysis indicated that a population expansion from just two matrilineal lines was responsible for most of the ... Freeman S, Herran JC (2007). "Aging and other life history characters". Evolutionary Analysis (4th ed.). Pearson Education, Inc ...
Deletion in the 22q11.2 region of chromosome 22 has been associated with schizophrenia and autism. Schizophrenia and ... Gruneberg, H., 1938 An analysis of the "pleiotropic" effects of a new lethal mutation in the rat (Mus norvegicus). Proc. R. Soc ... The disease is caused by a defect in a single gene on chromosome 12 that codes for enzyme phenylalanine hydroxylase , that ... evidence from a meta-analysis of twin studies". Archives of General Psychiatry. 60 (12): 1187-1192. doi:10.1001/archpsyc.60.12. ...
Fluorescence in situ hybridization
... of oligozoospermic men have an increased rate of sperm chromosome abnormalities. The analysis of chromosomes 21, X, and Y ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... A traditional exam involving metaphase chromosome analysis is often unable to identify features that distinguish one disease ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Chromosome numberEdit. The basic chromosome number is (rarely 6) mostly 8-9 (rarely 17). ... Molecular Phylogenetic Analysis Of Nuclear And Chloroplast Data Sets And A Revised Classification. - International Journal of ... The monophyly of this broadly defined Amaranthaceae has been strongly supported by both morphological and phylogenetic analyses ...
Bioinformática, a enciclopedia libre
Sequence and Genome Analysis (2ª ed.). ISBN 0-87969-712-1.. *↑ Gibas, Cynthia (2001). O'Reilly, ed. Developing Bioinformatics ... describen o uso de cromosomas artificiais de lévedo (YAC, Yeast Artificial Chromosome), e Kulesh et al. sentan as bases dos ... 2005). Bioinformatics: A Practical Guide to the Analysis of Genes and Proteins (en inglés) (third edition ed.). Wiley. ISBN 0- ... Proceedings of the Workshop on Microscopic Image Analysis with Applications in Biology held in association with MICCAI06 ( ...
Mycobacterium avium subspecies paratuberculosis
condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... Sarkisian CJ, Master SR, Huber LJ, Ha SI, Chodosh LA (Oct 2001). "Analysis of murine Brca2 reveals conservation of protein- ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
Singh RJ (2011). Genetic Resources, Chromosome Engineering, and Crop Improvement. Medicinal Plants. 6. Boca Raton: CRC Press. p ... a longitudinal analysis". Pharmacotherapy. 27 (9): 1237-47. doi:10.1592/phco.27.9.1237. PMID 17723077. S2CID 3905654.. ... A systematic review and meta-analysis". Oncol. Nurs. Forum. 40 (2): 163-170. doi:10.1188/13.onf.163-170. ISSN 0190-535X. PMID ...
Liu WS, Soldatov NM, Gustavsson I, Chowdhary BP (1999). "Fiber-FISH analysis of the 3'-terminal region of the human L-type Ca2+ ... to chromosome 12p13.2-pter using a dinucleotide repeat". Genomics. 14 (1): 206-7. doi:10.1016/S0888-7543(05)80312-X. PMID ... to chromosome 12p12-pter". Genomics. 10 (3): 835-9. doi:10.1016/0888-7543(91)90471-P. PMID 1653763.. ... Large-scale genetic analyses have shown the possibility that CACNA1C is associated with bipolar disorder  and subsequently ...
Molecular analysis of chromosome-mediated gene transfer | PNAS
Chromosome Analysis, Fetal Blood
... ,ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative ... Chromosome Analysis, FISH-Metaphase. 9. Chromosome Analysis, Multiple Myeloma Panel by FISH. 10. Chromosome Analysis, Oncology ... Chromosome Analysis, Bone Marrow. 3. Chromosome Analysis, Chorionic Villus Sampling (CVS). 4. Chromosome Analysis, Breakage ... Chromosome Analysis, Chronic Lymphocytic Leukemia (CLL) Panel by FISH. 6. Chromosome Analysis, FISH-Interphase. 7. Chromosome ...
Chromosome Analysis, Percutaneous Umbilical Blood
This test performs STAT chromosome analysis on fetal blood sample obtained by percutaneous umbilical blood sampling (PUBS) ... Final written chromosome result (high resolution chromosome result) will be available in ~7 days. ... Verbal STAT preliminary result (non-high resolution chromosome result) will be available in 2 business days (within 72 hours) ...
Holocentric chromosomes: convergent evolution, meiotic adaptations, and genomic analysis
Holocentric chromosomes have the unusual property of attaching to spindle microtubules along their entire length. Our ... the kinetochore protein complex assembles at a single locus termed the centromere to attach chromosomes to spindle microtubules ... Holocentric chromosomes: convergent evolution, meiotic adaptations, and genomic analysis Chromosome Res. 2012 Jul;20(5):579-93. ... Holocentric chromosomes have the unusual property of attaching to spindle microtubules along their entire length. Our ...
Chromosome Analysis (High Resolution), Peripheral Blood
Chromosome analysis reflex to Microarray analysis is also available. If patient has a family history of known chromosome ... For newborn patients, STAT blood chromosome analysis is available at extra charge (see test code STATPB), which provides faster ... abnormality, please provide the family members chromosome result information (attach a copy of test result if available). If ...
Chromosome Analysis Goes High Tech | The Scientist Magazine®
... when researchers began to study chromosomes, the analysis of human chromosomes has presented a particularly tough technological ... For these reasons, it wasnt until 1956 that the correct number of 46 human chromosomes (23 pairs) was clearly demonstrated. ... Chromosome Analysis Goes High Tech. Since the 1 920s, when researchers began to study chromosomes, the analysis of human ... Since the 1 920s, when researchers began to study chromosomes, the analysis of human chromosomes has presented a particularly ...
Chromosome analysis | UW Health | Madison, WI
Chromosome analysis. Chromosome analysis is a test that looks at the genetic material inside the chromosomes. It can be done on ... The chromosomes of an adult have an abnormality that can be passed on to a child. ... A chromosome problem is preventing a woman from becoming pregnant or causing her to miscarry. ... Chromosome analysis can help find out if:. * ... A chromosome problem is present in a baby.. *Chromosomal ...
Analysis of rye B-chromosome structure using fluorescence in situ hybridization (FISH) | SpringerLink
... has been used to analyse the structure of the rye B chromosome. Genomic in situhybridization (GISH) demonstrates the high level ... Blunden R (1994) Molecular analysis of the rye B-chromosome. PhD thesis, University of Wales.Google Scholar ... Analysis of rye B-chromosome structure using fluorescencein situ hybridization (FISH). ... Timmis JN, Ingle J, Sinclair J, Jones RN (1975) The genomic quality of rye B-chromosomes.J Exp Bot 26: 367-378.Google Scholar ...
Aneuvysion FISH Analysis | Laboratory Test Detecting Numerical Abnormalities of Chromosomes | University Hospitals
When Aneuvysion FISH is ordered in conjunction with chromosome analysis, final chromosome results are available approximately ... For Aneuvysion AND chromosome analysis: *20-30 mg chorionic villi with minimal decidua collected in sterile conical tube with ... Aneuvysion FISH analysis can be performed using a sample of chorionic villus or amniotic fluid obtained from the patients ... is usually ordered when there is a high level of suspicion of the presence of a chromosomal aneuploidy involving chromosome 13 ...
The DNA sequence and analysis of human chromosome 6
The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire ... Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. ... The DNA sequence and analysis of human chromosome 6 Nature. 2003 Oct 23;425(6960):805-11. doi: 10.1038/nature02055. ... Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises ...
Rapid analysis of chromosome aberrations in mouse B lymphocytes by PNA-FISH. - PubMed - NCBI
Rapid analysis of chromosome aberrations in mouse B lymphocytes by PNA-FISH.. Misenko SM1, Bunting SF2. ... Analysis of the frequency and type of chromosome aberrations in different cell types allows defects in DNA repair pathways to ... facilitates the rapid analysis of genomic instability in metaphase chromosome spreads. B cells have specific advantages ...
Genetic Analysis of Hybrid Cells Using Isozyme Markers as Monitors of Chromosome Segregation | SpringerLink
Genetic Analysis of Hybrid Cells Using Isozyme Markers as Monitors of Chromosome Segregation. ... and adenylate kinase are syntenic on mouse chromosome 4 and human chromosome 1p, Proc. Natl. Acad. Sci. USA 75:2382-2386.PubMed ... Genetic Analysis of Hybrid Cells Using Isozyme Markers as Monitors of Chromosome Segregation. In: Shay J.W. (eds) Techniques in ... McKusick, V. A., and Ruddle, F. H., 1977, The status of the gene map of human chromosomes, Science 196:390-405.PubMedCrossRef ...
DNA Ploidy and Chromosome (FISH) Pattern Analysis of Peripheral Nerve Sheath Tumors
... Anett Hruska,1 Reinhard Bollmann,2 Rita ... Two diploid MPNSTs proved to be clearly aneusomic with trisomy of chromosome 17 and monosomy of chromosome 18. Conclusions: All ... technique using centromeric chromosome probes (7, 17 and 18) and automatic image analysis station, Metafer 4. Results: Benign ... These characters were not found among neurofibromas and MPNST‐s. FISH analysis revealed and confirmed that the normal euploid ...
DNA Ploidy and Chromosome (FISH) Pattern Analysis of Peripheral Nerve Sheath Tumors
... , C. Cremer Cellular Oncology Letter to the ... DNA Ploidy and Chromosome (FISH) Pattern Analysis of Peripheral Nerve Sheath Tumors. Anett Hruska,1 Reinhard Bollmann,2 Rita ... Anett Hruska, Reinhard Bollmann, Rita Beáta Kovács, Magdolna Bollmann, Miklós Bodó, and Zoltán Sápi, "DNA Ploidy and Chromosome ... FISH) Pattern Analysis of Peripheral Nerve Sheath Tumors," Cellular Oncology, vol. 26, no. 5-6, pp. 335-345, 2004. https://doi. ...
Analysis of Expressed Sequence Tag Loci on Wheat Chromosome Group 4 | Genetics
Chromosomes 4B and 4D:. Chromosome 4B had the fewest mapped ESTs (458) and loci of the three group 4 chromosomes. In general, ... Individual chromosome analyses of the EST loci distribution between the short and long chromosome arms showed that the number ... Analysis of Expressed Sequence Tag Loci on Wheat Chromosome Group 4. Miftahudin, K. Ross, X.-F. Ma, A. A. Mahmoud, J. Layton, M ... Analysis of Expressed Sequence Tag Loci on Wheat Chromosome Group 4. Miftahudin, K. Ross, X.-F. Ma, A. A. Mahmoud, J. Layton, M ...
The DNA sequence and comparative analysis of human chromosome 5.
... Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., ... Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the ... We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very ...
Wiley: Flow Cytometry with Plant Cells: Analysis of Genes, Chromosomes and Genomes - Jaroslav Dolezel, Johann Greilhuber, Jan...
Chromosome Analysis and Sorting (J. Dolezel, M. Kubalakova, P. Suchankova, P. Kovarova, J. Bartos, H. Simkova). Analysis of ... genomic analysis, cell cycle analysis, marine organism analysis and breeding studies.. With its list of general reading and a ... Flow Cytometry with Plant Cells: Analysis of Genes, Chromosomes and Genomes. Jaroslav Dolezel (Editor), Johann Greilhuber ( ... Cell Cycle Analysis in Plants (M. Pfosser, Z. Magyar, L. Bogre). Endopolyploidy in Plants and its Analysis by Flow Cytometry (M ...
Molecular analysis of mitotic chromosome condensation using a quantitative time-resolved fluorescence microscopy assay | PNAS
Chromosome Condensation Is Temporally Biphasic in C. elegans.. Our analysis revealed that C. elegans chromosomes condense with ... Analysis of the role of CENP-A chromatin in the assembly of mitotic chromosomes is limited by the fact that the primary ... Analysis of mitotic chromosome remodeling has been limited, with few exceptions (19-21), by the methods available to monitor ... Molecular analysis of mitotic chromosome condensation using a quantitative time-resolved fluorescence microscopy assay. Paul S ...
Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer | Nature Genetics
... a pervasive genetic event that frequently occurs due to chromosome 1p loss. Inhibition of MAGOHB in a MAGOH-deleted context ... Analysis of paralog gene pairs using data from loss-of-function genetic screens in cancer cells identifies MAGOH and MAGOHB as ... paralog dependencies across cancer types and suggest a rationale for targeting the MAGOHB-IPO13 axis in cancers with chromosome ... Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer. *Srinivas R. Viswanathan ...
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization...
Empirical data and computational analyses of oligo response and distribution from a pilot array were used to design an ... Standard array-comparative genomic hybridization experiments, including a simultaneous blind analysis of a set of clinical ... platform to give high-resolution coverage of regions within the genome sequence coordinates of BAC/P1 artificial chromosome ( ... was to test the ability of oligonucleotide-based arrays to reproduce the results of focused bacterial artificial chromosome ( ...
CHRTI - Overview: Chromosome Analysis, Skin Biopsy
Subsequent chromosome analysis when results from peripheral blood are inconclusive ... Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities ... Chromosome Analysis, Skin Biopsy. Chromosome Analysis, Tissue Biopsy. Karyotype, Skin Biopsy. Karyotype, Tissue Biopsy ... If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required ...
CHROMOSOME ANALYSIS OF PRODUCTS OF CONCEPTION
CHROMOSOME ANALYSIS OF CONGENITAL DISORDERS BLOOD
CHROMOSOME ANALYSIS OF PRODUCTS OF CONCEPTION. *CHROMOSOME ANALYSIS WITH FLUORESCENCE IN SITU HYBRIDIZATION TEST FOR ... Home , Patient Care , Specialties and Services , Pathology , CHROMOSOME ANALYSIS OF CONGENITAL DISORDERS BLOOD ... CHROMOSOME ANALYSIS OF BONE MARROW BONE CORE HEMATOLOGIC DISORDERS BLOOD EFFUSION FLUID (2) ... CHROMOSOME ANALYSIS OF BONE MARROW BONE CORE HEMATOLOGIC DISORDERS BLOOD EFFUSION FLUID ...
Fertility Testing: Chromosome Analysis
Includes information on further steps to take if test results are positive for chromosome abnormalities. ... An overview of why some couples may want to opt for chromosome analysis. ... What is a Chromosome Analysis?. A chromosome analysis is a test that can be performed to determine the number, order, and shape ... Home › Getting Pregnant › Fertility Testing › Chromosome Analysis. Chromosome Analysis. If you have been experiencing ...
Analysis of Genomic Structures Involved in Chromosome 22q Deletion Syndrome Event Details | Drexel BME
Analysis of Genomic Structures Involved in Chromosome 22q Deletion Syndrome. Speaker:. Steven Pastor, PhD Candidate. School of ... Analysis of Genomic Structures Involved in Chromosome 22q Deletion Syndrome. Monday, December 3, 2018 ... Chromosome 22q11.2 Deletion Syndrome (22q11DS) is the most common microdeletion disorder in humans. The disease demonstrates ... The approaches developed here will likely represent a paradigm, providing resources for the analysis of numerous other ...
Genetic Analysis of Chromosome Break Metabolism in Eukaryotic Cells | Memorial Sloan Kettering Cancer Center
Chromosome analysis of multipronuclear human oocytes after in vitro fertilization.
Their chromosome analysis can provide useful information. Before cleavage it can confirm the suspected polyploidy. Among the ... Their chromosome analysis can provide useful information. Before cleavage it can confirm the suspected polyploidy. Among the ... 7750595 - The chromosome pattern of embryos derived from tripronuclear zygotes studied by cytogen.... 11417905 - ... 2956585 - A simple technique for obtaining high quality chromosome preparations from chorionic vi.... 4020135 - Longitudinal ...
CHFXH - Overview: Chromosome Analysis, Hematologic Disorders, Fixed Cells
If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required ... Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 or ... Chromosomes, Hematol Fixed Cells. Aliases Lists additional common names for a test, as an aid in searching. Karyotype, Bone ... This test only includes a charge for professional interpretation of results and does not include charges for analysis. ...
Chromosome Analysis, Blood | definition of Chromosome Analysis, Blood by Medical dictionary
What is Chromosome Analysis, Blood? Meaning of Chromosome Analysis, Blood medical term. What does Chromosome Analysis, Blood ... Looking for online definition of Chromosome Analysis, Blood in the Medical Dictionary? Chromosome Analysis, Blood explanation ... Chromosome Analysis, Blood. Chromosome Analysis, Blood. Synonym/acronym: N/A. Common use. To test for suspected chromosomal ... Chromosome analysis or karyotyping involves comparison of test samples against normal chromosome patterns of number and ...
Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study.
chromosome analysis (karyotyping). However, the contribution of routine chromosome analysis to the assessment and management of ... Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study.. 07:00 EST 1st January 2019 , ... Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study.". Gender dysphoria refers to the ... This study aims to assess the results of chromosome analysis and its effect on the management of gender dysphoria. ...
GenomeKaryotypePatients with Philadelphia chromosome-positiveAcute lymphoblMethodsGenesChromosomalAbnormalitiesTranslocationsGeneBlood Chromosome AnalysisAbnormalityFluorescenceMicroarrayCytogeneticSNPsBACsBacterial artificialSequenceClonesQuantitativeHolocentric chromosomesCentromericAutosomal chromosomesMetaphase chromosomesRearrangementLong arm of chromosomeShort arm of chromosomeHumanHomologsMarkersBreakpointsPortion of the Y chromosomeFetal BloodMicrodissectionCharacterizationLinkageMidget chromosomeAutomatic chromosomeConclusionsResultsDifferential expressionChromatin
Patients with Philadelphia chromosome-positive1
- What are the treatment recommendations for Philadelphia chromosome-negative acute lymphoblastic leukemia (ALL) in adults 40 years or older? (medscape.com)
- Outcome of treatment in adults with acute lymphoblastic leukemia: analysis of the LALA-94 trial. (medscape.com)
- Clinical effect of imatinib added to intensive combination chemotherapy for newly diagnosed Philadelphia chromosome-positive acute lymphoblastic leukemia. (medscape.com)
- Imatinib combined with induction or consolidation chemotherapy in patients with de novo Philadelphia chromosome-positive acute lymphoblastic leukemia: results of the GRAAPH-2003 study. (medscape.com)
- A pivotal phase 2 trial of ponatinib with chronic myeloid leukemia (CML) and Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) resistant or intolerant to dasatinib or nilotinib, or with the T315I BCR-ABL mutation: 12-month follow-up of the PACE trial. (medscape.com)
- Adverse prognostic significance of CD20 expression in adults with Philadelphia chromosome-negative B-cell precursor acute lymphoblastic leukemia. (medscape.com)
- However, the method of introduction of HACs into target cells is confined to microcell-mediated chromosome transfer (MMCT), which is less efficient than other methods of vector introduction. (biomedcentral.com)
- METHODS: This study assessed the impact of baseline cytogenetics on the outcomes of 428 adult patients with Philadelphia chromosome-negative ALL who were receiving frontline chemotherapy. (elsevier.com)
- Flavell RB, Rimpau J (1975) Ribosomal RNA genes and supernumerary B-chromosomes of rye. (springer.com)
- Maluszynska J, Schweitzer D (1989) Ribosomal RNA genes in B-chromosomes of Crepis capillaris detected by non-radioactive in situ hybridization. (springer.com)
- Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. (nih.gov)
- In the extreme materials, a total of 93 differentially expressed genes were predicted and were then analyzed by cluster analysis and Gene Ontology (GO) annotation. (mdpi.com)
- Polymorphisms in three genes, glucose transporter 2 ( SLC2A2 ), kininogen ( KNG1 ), and adiponectin ( ADIPOQ ), showed nominal association with diabetic nephropathy in single-point analysis. (diabetesjournals.org)
- Chromosome 1, which is the largest human chromosome and harbours about 8% of the entire human genomic information, reveals in region lq21 a most remarkable clustering of genes that fulfil important functions in development and differentiation. (europa.eu)
- This parental-specific phenotype, along with mapping of the insertion to a region of chromosome 12 proposed to contain imprinted genes, suggested that disruption of genomic imprinting might underlie the Adp phenotype. (portlandpress.com)
- We integrated chromosome 5 genomic copy number and gene expression data to identify key target over expressed genes as a consequence of 5p gain. (7thspace.com)
- Of the genes inherited from the ancestral chromosome, 46% have no functional copies on (and were therefore lost from) the HSY, and surprisingly, 29% were lost from the X. Thirty three HSY specific transcripts were identified, providing a list of sex determination gene candidates. (illinois.edu)
- Both the X and the HSY have gained and lost genes and a gene rearrangement has occurred on the X, further supporting the conclusion that the X chromosome is not an unchanged version of the ancestral autosome. (illinois.edu)
- Genetic analysis of Saccharomyces cerevisiae chromosome I: on the role of mutagen specificity in delimiting the set of genes identifiable using temperature-sensitive-lethal mutations. (genetics.org)
- In a previous attempt to identify as many as possible of the essential genes on Saccharomyces cerevisiae chromosome I, temperature-sensitive (Ts-) lethal mutations that had been induced by ethyl methane-sulfonate or nitrosoguanidine were analyzed. (genetics.org)
- In contrast, molecular analyses of segments of the chromosome have suggested the presence of numerous additional essential genes. (genetics.org)
- Of the remaining two mutations, one was in one of the essential genes identified in the molecular analyses, and the other was too leaky to be mapped. (genetics.org)
- A summary of the content in this knowledge resource reveals that there exist more than 10 antibodies to over 70% of all the putative human genes, evenly distributed over the 24 human chromosomes. (diva-portal.org)
- The analysis also shows that at present, less than 10% of the putative human protein-coding genes (n = 1882) predicted from the genome sequence lack antibodies, suggesting that focused efforts from the antibody-based and mass spectrometry-based proteomic communities should be encouraged to pursue the analysis of these missing proteins. (diva-portal.org)
- Producing somatic fusion hybrids between distantly related non-crossable taxa opened the possibilities for the introgression of useful genes or chromosomes from various species to cultivated crops. (wur.nl)
- These techniques have surpassed all the difficulties that were faced in conventional breeding or classical cytogenetics in identification of desirable chromosomes and genes. (wur.nl)
- Acrotrisomic analysis by Riley and Tsuchiya (1988) showed that three genes, nld (narrow leaf dwarf), fs (fragile stem), and va (variegated), are located on the distal 72.4% of the long arm of chromosome 7. (usda.gov)
- Fig. 1.Map construction for three genes on the long arm of chromosome 7, distances are given in percent recombination, C indicates the centromere. (usda.gov)
- All isolates were subjected to polymerase chain reaction (PCR) assay for 15 distinct resistance genes, staphylococcal cassette chromosome mec (SCCmec), and arginine catabolic mobile elements (ACMEs). (scielo.br)
- Functional analysis of chromosome 18 in pancreatic cancer: strong evidence for new tumour suppressor genes. (ad-astra.ro)
- Background and Purpose- Recently independent studies reported an association between coronary heart disease and single-nucleotide polymorphisms (SNPs) located at chromosome 9p21, near CDKN2A and CDKN2B genes. (ahajournals.org)
- Publications] Yasushi Saitoh: 'Identification and localization of two genes on the chicken Z chromosome:implication of evolutionary conservation of the Z chromosome among avian species' Chromosome Res.1. (nii.ac.jp)
- Association testing of the functional positional candidate genes on the AAA1 locus on chromosome 19q13 demonstrated nominal association in three genes. (springer.com)
- In order to identify candidate genes for testing association with bipolar disorder, we previously established a comprehensive transcript map that encompasses the chromosome 4q35 susceptibility locus implicated in our linkage analysis. (garvan.org.au)
- We have therefore, excluded approximately half the genes within the chromosome 4q35 candidate interval from playing a direct pathogenic role in bipolar disorder. (garvan.org.au)
- Homologs have the same genes in the same loci where they provide points along each chromosome which enable a pair of chromosomes to align correctly with each other before separating during meiosis. (wikipedia.org)
- Homologous chromosomes are made up of chromosome pairs of approximately the same length, centromere position, and staining pattern, for genes with the same corresponding loci. (wikipedia.org)
- The alleles on the homologous chromosomes may be different, resulting in different phenotypes of the same genes. (wikipedia.org)
- Using test cross experiments, he revealed that, for a single parent, the alleles of genes near to one another along the length of the chromosome move together. (wikipedia.org)
- Using this logic he concluded that the two genes he was studying were located on homologous chromosomes. (wikipedia.org)
- Homologous chromosomes are chromosomes which contain the same genes in the same order along their chromosomal arms. (wikipedia.org)
- The 22 pairs of homologous chromosomes contain the same genes but code for different traits in their allelic forms since one was inherited from the mother and one from the father. (wikipedia.org)
- The process of meiosis I is generally longer than meiosis II because it takes more time for the chromatin to replicate and for the homologous chromosomes to be properly oriented and segregated by the processes of pairing and synapsis in meiosis I. During meiosis, genetic recombination (by random segregation) and crossing over produces daughter cells that each contain different combinations of maternally and paternally coded genes. (wikipedia.org)
- Aneuvysion FISH can detect the presence of trisomy 13, 18, 21, X, and Y. Aneuvysion FISH is usually ordered when there is a high level of suspicion of the presence of a chromosomal aneuploidy involving chromosome 13, 18, 21, X, and Y. Aneuvysion FISH results are available 72 hours after receipt of the sample (business days only). (uhhospitals.org)
- The advent of array-based copy number analysis using comparative genomic hybridization (CGH) or non-CGH methods, including analysis of single nucleotide polymorphisms, has been a breakthrough in the detection of chromosomal copy number changes in the clinical setting. (nature.com)
- Also called a karyotype, a chromosomal analysis can be used to see if your chromosomes are playing a role in your infertility. (sharedjourney.com)
- There are some very common chromosomal abnormalities that can be looked for during a chromosome analysis. (sharedjourney.com)
- Method: Tissue culture and microscopic analysis) No chromosomal abnormalities identified. (thefreedictionary.com)
- Chromosomal microarray analysis and prenatal diagnosis. (springer.com)
- Using this technology, several recent studies revealed a strong association between a chromosomal locus on chromosome 9p21.3 and CAD and MI. (ahajournals.org)
- 3-6 To further elucidate the role of this chromosomal locus in the molecular genetics of CAD, we investigated variants at this locus in 7 additional European studies and undertook a meta-analysis of all studies published to date. (ahajournals.org)
- The chromosomal location of the critically deleted region was confirmed to be within 1p22 by karyotypic and fluorescence in situ hybridization analyses. (aacrjournals.org)
- Inversions (top panel, right side) are where the normal order of genomic material within a chromosome is altered by the abnormal repair of chromosomal breakpoints (block arrows and dotted lines). (bmj.com)
- Exportin 1 (Chromosome Region Maintenance 1 Protein Homolog or XPO1) - Exportin 1 (XPO1) or chromosomal maintenance 1 (CRM1) is a eukaryotic protein. (medgadget.com)
- You'll be able to Generate results quickly with a streamlined analysis workflow, summarize chromosomal aberrations across the genome, focus analysis. (fileguru.com)
- Analysis of 21 experimental ECs revealed specific nonrandom numerical and structural chromosomal changes. (diva-portal.org)
- This mixing of maternal and paternal traits is enhanced by crossing over during meiosis, wherein lengths of chromosomal arms and the DNA they contain within a homologous chromosome pair are exchanged with one another. (wikipedia.org)
- There are two main properties of homologous chromosomes: the length of chromosomal arms and the placement of the centromere The actual length of the arm, in accordance with the gene locations, is critically important for proper alignment. (wikipedia.org)
- Since then, the field of cytogenetics-linking chromosome abnormalities with syndromes-has proceeded more or less in fits and starts, with key developments in chromosome preparation explaining more and more once mysterious medical conditions. (the-scientist.com)
- Variations can range from a small, single-gene mutation to abnormalities in an entire chromosome or set of chromosomes due to duplication, deletion, substitution, translocation, or other rearrangement. (thefreedictionary.com)
- The computer system can also prepare a patient report summarizing the result of the analysis and listing suspected abnormalities. (patents.com)
- Fluorescent in situ hybridization with a chromosome 21-specific genomic library showed no abnormalities and only two copies of chromosome 21 were detected. (diva-portal.org)
- Now, tiny inversions (reversals in the banding pattern), duplications, deficiencies, and translocations (chromosomes that swap parts) could be noted by trained eyes. (the-scientist.com)
- This study confirmed the complex structure of chromosome 4A that contains two reciprocal translocations and two inversions, previously identified. (genetics.org)
- Several of the 21 chromosomes of hexaploid wheat contain translocations of considerable size ( G ale 1990 ). (genetics.org)
- proposed translocations involving chromosomes 4A, 5A, and 7B, which have been found in T. turgidum L. and T. aestivum . (genetics.org)
- Among the most common are translocations (top panel, left side) which may be reciprocal (a swap of chromosome material between non-homologous chromosomes) or Robertsonian (a fusion of two acrocentric chromosomes). (bmj.com)
- We demonstrate the effectiveness of array painting by the analysis of two clinical cases, both involving cytogenetically balanced translocations. (bmj.com)
- The spelt accessions did not differ in karyotype structure or heterochromatin distribution from common wheat, but showed greater intraspecific polymorphism by chromosome rearrangements (translocations, inversions) and banding patterns. (deepdyve.com)
- Metaphase chromosomes isolated from a cell line carrying the thymidine kinase (TK) gene of herpes simplex virus type I were used to transform the TK-deficient cell line LMTK- to the TK+ phenotype. (pnas.org)
- Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome. (nih.gov)
- Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. (uniprot.org)
- Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter). (biomedsearch.com)
- In this study we investigated three reported gene locations by nonparametric and parametric linkage analysis in a large family set consisting of 104 families (153 sib pairs) from Sweden. (nih.gov)
- The human ATP synthase beta subunit gene: sequence analysis, chromosome assignment, and differential expression. (sigmaaldrich.com)
- In humans, the functional F0F1-ATP synthase beta subunit gene is located on chromosome 12 in the p13----qter region. (sigmaaldrich.com)
- Methods: To examine the role of 5p gain, we performed a combination of single nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and gene expression analyses on invasive cancer and in various stages of CC progression. (7thspace.com)
- Though signs of Y evolution are distinct, with the expansion of the Y chromosome in early stages and the degeneration and loss of gene content, the X chromosome has long been thought to conserve the ancestral autosome's structure and gene content. (illinois.edu)
- Surprisingly, of 21 independently isolated mutations that mapped to chromosome I, 17 were again in the same three complementation groups as identified previously, and two of the remaining four mutations were apparently in a known gene involved in cysteine biosynthesis. (genetics.org)
- 2 These rather disappointing results have called into question the credibility of candidate gene analysis for clinical risk prediction of CAD and MI. (ahajournals.org)
- Previous cytogenetic analysis has revealed frequent losses of chromosome 1p21-22 in human malignant mesothelioma, suggesting that the loss or inactivation of a tumor suppressor gene(s) residing at this site may contribute to the tumorigenic conversion of mesothelial cells. (aacrjournals.org)
- In the teleost fish medaka, a sex-determination gene on the Y chromosome, DMY / dmrt1bY , is expressed in gonadal somatic cells and regulates the sexual identity of germ cells. (biologists.org)
- We have identified a novel gene, Sdgc (sex chromosome-dependent differential expression in germ cells), whose transcripts are highly enriched in early XY germ cells. (biologists.org)
- Finally, using FISH, we verify the presence of a gene fusion between TMPRSS2 and ERG suggested by chromosome 21 deletions detected by array CGH. (aacrjournals.org)
- This study was intended to provide functional evidence for the existence of new tumour suppressor gene(s) located on chromosome 18. (ad-astra.ro)
- Illumina analysis identified differential expression of Osteopontin (Spp1) in neonatal hearts of the SHRSP versus WKY and respective chromosome 14 congenic strains as a positional candidate gene. (gla.ac.uk)
- This meta-analysis enabled us to obtain a precise estimation of the association between gene polymorphisms on chromosome 1 ( MTHFR , AGT , F5 , IL-10 , LEPR ) and the susceptibility to pre-eclampsia (PE) in order to reach a uniform conclusion. (pubmedcentralcanada.ca)
- Analysis of tumor cell lines with a CC or CT genotype revealed a high level of MSMB gene expression compared with cell lines with a TT genotype. (harvard.edu)
- Thus, the Y-chromosome gene pool in the modern Egyptian population reflects a mixture of European, Middle Eastern, and African characteristics, highlighting the importance of ancient and recent migration waves, followed by gene flow, in the region. (skadi.net)
- We demonstrated by cDNA cloning and FISH that ZOV3 (a gene belonging to the immunoglobulin superfamily) and IREBP (chicken homolog of iron responsive element binding protein) were localized on different arms of the Z chromosome. (nii.ac.jp)
- Gene content across the two chromosomes was highly conserved. (biomedcentral.com)
- This comparative analysis of two high-quality chromosome assemblies enabled a comprehensive assessment of large structural variations and gene content. (biomedcentral.com)
- Chromosome 1 open reading frame 162 is a protein that in humans is encoded by the C1orf162 gene. (wikipedia.org)
- The gene is located at p13.2 on chromosome 1 in humans and contains 8 exons. (wikipedia.org)
- Later on during the 1930s Harriet Creighton and Barbara McClintock were studying meiosis in corn cells and examining gene loci on corn chromosomes. (wikipedia.org)
- The additional 23rd pair is the sex chromosomes, X and Y. If this pair is made up of an X and Y chromosome, then the pair of chromosomes is not homologous because their size and gene content differ greatly. (wikipedia.org)
Blood Chromosome Analysis1
- If patient has a family history of known chromosome abnormality, please provide the family member's chromosome result information (attach a copy of test result if available). (nationwidechildrens.org)
- The chromosomes of an adult have an abnormality that can be passed on to a child. (uwhealth.org)
- or other suspected sex chromosome abnormality (e.g. (stgeorges.nhs.uk)
- Terminated fetus, for confirmation of an abnormal cytogenetic result diagnosed prenatally or in fetus suspected of having a chromosome abnormality (e.g. multiple markers diagnosed on ultrasound). (stgeorges.nhs.uk)
- History of chromosome abnormality indicative of increased risk for future pregnancies. (stgeorges.nhs.uk)
- Fluorescence in situ hybridization (FISH) has been used to analyse the structure of the rye B chromosome. (springer.com)
- For further insight we analyzed 6 schwannomas, one atypical neurofibroma and five MPNSTs by fluorescence in situ hybridization (FISH) technique using centromeric chromosome probes (7, 17 and 18) and automatic image analysis station, Metafer 4. (hindawi.com)
- Clones can be easily selected and obtained for use in fluorescence in situ hybridisation (FISH) investigations of aberrant chromosomes and breakpoint spanning clones can now be identified in a systematic way. (bmj.com)
- Analysis of chromosome aneuploidy in sperm by fluorescence in situ. (sjweh.fi)
- Fluorescence in situ and genomic Southern hybridizations clearly showed that the amplified DNA originated from the midget chromosome. (nii.ac.jp)
- DNA probes were generated by microdissection from the centromeric regions of individual autosomes of each species, and their fluorescence in situ hybridization (FISH) with metaphase chromosomes of representatives of all studied wood mouse species was carried out. (deepdyve.com)
- Chromosome analysis reflex to Microarray analysis is also available. (nationwidechildrens.org)
- The resolution should be higher by chromosome microarray analysis (CMA). (springer.com)
- Consensus statement: chromosome microarray is a first tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (springer.com)
- Kishikawa H (1965) Cytogenetic studies of B-chromosomes in rye, Secale cereale L., in Japan. (springer.com)
- To evaluate the effect of the improvement of chromosome analysis on the cytogenetic findings of Turner syndrome (TS) patients. (scielo.br)
- Improvement of chromosome analysis over the years has modified the cytogenetic profile of TS. (scielo.br)
- Conventional cytogenetic analysis uses light microscopy to examine metaphase or prometaphase chromosomes that have been stained to produce a distinct banding pattern for each chromosome. (bmj.com)
- Affymetrix® Chromosome Analysis Suite ( ChAS ) software, designed specifically for cytogenetic researchers, gives you the exact functions you need within an easy-to-use graphical interface. (fileguru.com)
- Repeated cytogenetic investigations (G-banding and high resolution banding) on the patient and her parents showed apparently normal chromosomes. (diva-portal.org)
- 14,486 X-chromosome SNPs in 1,291 Asian and 1,118 European case-parent triads of isolated OFCs were available from a previous GWAS. (frontiersin.org)
- To ascertain a comprehensive catalog of common single-nucleotide polymorphisms (SNPs) across the two regions, we conducted a resequence analysis of 136 kb (chr8: 128,473,000-128,609,802) using the Roche/454 next-generation sequencing technology in 39 prostate cancer cases and 40 controls of European origin. (harvard.edu)
- Results- In analyses both unadjusted and adjusted for stroke risk factors, significant associations with ischemic stroke were observed for SNPs from the same haplotype block previously associated with myocardial infarction. (ahajournals.org)
- Subgroup analysis by ethnicity revealed that, except for MTHFR rs1801133 and F5 rs6025 in Caucasians, which were significantly associated with an increased risk of PE, none of these SNPs were significantly associated with PE. (pubmedcentralcanada.ca)
- These findings were specific to the alleles of rs10993994 and were not observed for other SNPs determined by sequence analysis of the proximal promoter. (harvard.edu)
- Both family-based analysis, using the pedigree disequilibrium test (PDT), and case-control analysis, using logistic regression with adjustment for age at exam and sex, were used to test for single-marker allelic association between these SNPs and AMD. (arvojournals.org)
- Analysis of these SNPs was then extended to our unrelated bipolar case-control cohort to test for association with the disorder. (garvan.org.au)
- Until recently, most clinical applications of array-CGH, other than some cancer studies, have been based on arrays constructed by covalent attachment to glass slides of DNA from whole clones, typically cosmids, P1 artificial chromosomes (PACs), or bacterial artificial chromosomes (BACs), or of polymerase chain reaction products generated from such clones. (nature.com)
- Eleven V. monoica bacterial artificial chromosomes (BACs) corresponding to the X-specific region of papaya, and one V. monoica BAC corresponding to a papaya autosomal BAC, were sequenced, annotated, and analyzed. (illinois.edu)
- Purpose: The goal of this work was to test the ability of oligonucleotide-based arrays to reproduce the results of focused bacterial artificial chromosome (BAC)-based arrays used clinically in comparative genomic hybridization experiments to detect constitutional copy number changes in genomic DNA. (nature.com)
- Analysis of the 1.1-Mb human alpha/delta T-cell receptor locus with bacterial artificial chromosome clones. (nih.gov)
- Bacterial artificial chromosome (BAC) clones are effective mapping and sequencing reagents. (nih.gov)
- One of these clones, WG644, was hybridized to rice and barley bacterial artificial chromosome (BAC) libraries to select homologous clones. (plantphysiol.org)
- A metagenomic (community genomic) library consisting of 5,760 bacterial artificial chromosome clones was prepared in Escherichia coli DH10B from DNA extracted from the large-bowel microbiota of BALB/c mice. (asm.org)
- Bacterial artificial chromosome (BAC) vectors are especially suitable in the preparation of metagenomic clone libraries because they stably maintain large DNA inserts (greater than 100 kbp) in Escherichia coli ( 3 ). (asm.org)
- The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. (nih.gov)
- Unfortunately, these same characteristics make the LCRs difficult to reliably sequence and identify rearrangement breakpoints within the homologous chromosome 22 LCRs in individuals with 22q11DS. (drexel.edu)
- At the conclusion of this searching operation, the computer directs the microscope to again sequence through the chromosome spread locations in response to the stored X and Y locations. (patents.com)
- There is a high degree of sequence conservation between the two chromosomes. (biomedcentral.com)
- The first notable high-quality sequence assembly of wheat was produced from the 1-gigabase chromosome 3B of the hexaploid wheat landrace Chinese Spring. (biomedcentral.com)
- Colinearity of a large region from barley ( Hordeum vulgare ) chromosome 5H and rice ( Oryza sativa ) chromosome 3 has been demonstrated by mapping of several common restriction fragment-length polymorphism clones on both regions. (plantphysiol.org)
- This process can be labour and time intensive as many clones have to be hybridised to the patient's chromosomes. (bmj.com)
- The analysis resolution is governed by the size and density of clones on the array. (bmj.com)
- Previous work in our laboratory utilising chromosome 14 congenic strains confirmed a quantitative trait locus for left ventricular mass index. (gla.ac.uk)
- quantitative analysis determination of the proportionate quantities of the constituents of a compound or mixture. (thefreedictionary.com)
- We previously established a congenic mouse strain with TALLYHO/Jng (TH) donor segment on chromosome 6 in a C57BL/6 (B6) background that harbors an obesity quantitative trait locus, tabw2 . (biomedcentral.com)
- Holocentric chromosomes have the unusual property of attaching to spindle microtubules along their entire length. (nih.gov)
- Our mechanistic understanding of holocentric chromosome function is derived largely from studies in the nematode Caenorhabditis elegans, but holocentric chromosomes are found over a broad range of animal and plant species. (nih.gov)
- By surveying the diversity of organisms with holocentric chromosomes, we estimate that the trait has arisen at least 13 independent times (four times in plants and at least nine times in animals). (nih.gov)
- Holocentric chromosomes have inherent problems in meiosis because bivalents can attach to spindles in a random fashion. (nih.gov)
- These results provide insights into the process of condensation, help resolve apparent contradictions from prior studies, and indicate that CENP-A chromatin has an intrinsic role in the condensation of holocentric chromosomes that is independent of its requirement for kinetochore assembly. (pnas.org)
- Both monocentric and holocentric chromosomes assemble kinetochores on chromatin containing the histone H3 variant CENP-A ( 15 - 18 ). (pnas.org)
- Holocentric chromosomes lack a primary constriction. (pnas.org)
- 1- 4 Originally, such arrays were constructed to replace metaphase chromosomes in comparative genomic hybridisation (CGH) experiments to provide increased resolution in regions of copy number change. (bmj.com)
- Similarly, these arrays should be equally useful in other procedures using metaphase chromosomes as the target for hybridisation. (bmj.com)
- The precision of this analysis is of course limited by the resolution afforded by metaphase chromosomes such that breakpoints can be localised only to within approximately 5-10 Mb. (bmj.com)
- Known familial chromosome rearrangement. (stgeorges.nhs.uk)
- In this report, we demonstrate that hybridisation of probes generated from flow sorted aberrant chromosomes to DNA microarrays, in a process we have termed "array painting", allows the high resolution identification of the composition of aberrant chromosomes and localisation of rearrangement breakpoints. (bmj.com)
Long arm of chromosome1
Short arm of chromosome2
- Since the 1 920s, when researchers began to study chromosomes, the analysis of human chromosomes has presented a particularly tough technological challenge, simply because there are so many of them. (the-scientist.com)
- For these reasons, it wasn't until 1956 that the correct number of 46 human chromosomes (23 pairs) was clearly demonstrated. (the-scientist.com)
- Every human being has 46 chromosomes, arranged into 23 pairs. (sharedjourney.com)
- Chromosome analysis of multipronuclear human oocytes after in vitro fertilization. (biomedsearch.com)
- Chromosomes analysis of human preimpl. (ugent.be)
- To help understand the human evolutionary history of this region, we performed Y chromosome analyses on ancient human remains from archaeological sites ranging in age from 6500 to 2700 BP. (uio.no)
- Antibodies are crucial for the study of human proteins and have been defined as one of the three pillars in the human chromosome-centric Human Proteome Project (CHPP). (diva-portal.org)
- In this article the chromosome-centric structure has been used to analyze the availability of antibodies as judged by the presence within the portal Antibodypedia, a database designed to allow comparisons and scoring of publicly available antibodies toward human protein targets. (diva-portal.org)
- Studies telomere lengths in human chromosome 16 and attempts to classify homologs of chromosome 16 into maternal and paternal classes. (ubc.ca)
- CONCLUSION: These data represent strong functional evidence that chromosome 18q encodes strong tumour and metastasis suppressor activity that is able to switch human pancreatic cancer cells to a dormant phenotype. (ad-astra.ro)
- Some chromosomes do not recognize their homologs before the onset of the leptotene-zygotene stage and undergo classical leptotene and zygotene stages. (bioone.org)
- A couple of homologous chromosomes, or homologs, are a set of one maternal and one paternal chromosome that pair up with each other inside a cell during meiosis. (wikipedia.org)
- The authors describe a method, termed array painting, which allows the rapid, high resolution analysis of the content and breakpoints of aberrant chromosomes. (bmj.com)
- By analysing patients with cytogenetically balanced chromosome rearrangements, the authors show the effectiveness of array painting as a method to map breakpoints prior to cloning and sequencing chromosome rearrangements. (bmj.com)
- The pattern of hybridisation identifies the composition of the aberrant chromosome and the position of the breakpoints. (bmj.com)
- Breakpoints in iso-Yq, iso-Yp and X-Y translocation chromosomes and X-Y interchanges in XX males are also amenable to analysis. (bmj.com)
Portion of the Y chromosome1
- But now an automatic chromosome analyzer-a system that includes a camera, a computer, and a microscope-may radically speed as well as improve the accuracy of our views of chromosomes. (the-scientist.com)
- An automatic chromosome analysis system is provided wherein a suitably prepared slide with chromosome spreads thereon is placed on the stage of an automated microscope. (patents.com)
- Conclusions: All these data suggest that ploidy pattern determination combined with FISH analysis may be a very useful supplementary tool for making a right diagnosis (to differentiate benign versus malignant schwannomas in problematic variants) and to understand better the malignant transformation in PNSTs. (iospress.com)
- When Aneuvysion FISH is ordered in conjunction with chromosome analysis, final chromosome results are available approximately 10 days after Aneuvysion FISH results have been reported. (uhhospitals.org)
- This test only includes a charge for professional interpretation of results and does not include charges for analysis. (mayomedicallaboratories.com)
- This study aims to assess the results of chromosome analysis and its effect on the management of gender dysphoria. (bioportfolio.com)
- Results: The SNP and FISH analyses revealed copy number increase (CNI) of 5p in 63% of invasive CC, which arises at later stages precancerous lesions in CC development. (7thspace.com)
- In most cases your Chromosome Analysis Blood results will be available to view inside your secure Personalabs patient account within 72 hours or less. (personalabs.com)
- 10 Here we present the results of these analyses. (ahajournals.org)
- These results indicate that neither old or recent Levantine expansions nor North African contacts have influenced the current Iberian Y-chromosome diversity so that geographical patterns can be identified. (blogspot.com)
- Meiosis is a round of two cell divisions that results in four haploid daughter cells that each contain half the number of chromosomes as the parent cell. (wikipedia.org)
- During the first interval, primary condensation converts diffuse chromatin into discrete linear chromosomes. (pnas.org)
- Inhibition of condensin blocks the ability of mitotic Xenopus extracts to reorganize sperm chromatin into linear rod-shaped chromosomes ( 5 , 6 ), suggesting an essential role in chromosome compaction and resolution. (pnas.org)
- Chromosomes are linear arrangements of condensed deoxyribonucleic acid (DNA) and histone proteins, which form a complex called chromatin. (wikipedia.org)