Identification of marker chromosomes by in situ hybridization technique using alpha and "classical" satellite DNA probes with relative chromosomal specificity. 1994

S G Vorsanova, and Y B Yurov, and I Passarge, and A Schmidt, and T E Zerova, and I A Demidova, and T I Buzhiyevskaya
Moscow Scientific Research Institute of Pediatrics and Pediatric Surgery.

Nine additional marker chromosomes in children with mental retardation and congenital malformation were investigated by routine cytogenetic and in situ hybridization techniques. Five metacentric non-satellited markers and four satellited markers of unknown origin were determined by routine and banding staining. To determine the origin of small marker chromosomes a special scheme involving the sequential application of definite alphoid and "classical" satellite DNA probes with the relative chromosome specificity was employed. The probes specific to four groups of definite chromosomes (i) 1, 3, 5, 6, 7, 10, 12, 16, 19; (ii) 2, 4, 8, 9, 13, 14, 15, 18, 20, 21, 22; (iii) 1, 11, 17, X; (iiii) 9, 13, 14, 15, 21, 22, Y and in situ hybridization under low stringency conditions were used at the first stage of experiments. After the preliminary analysis and the determination of possible origin of a marker chromosome from a definite group of chromosomes the probes with a strong chromosome-specificity under high stringency conditions were used. The approach involving the application of the original collection of chromosome-specific DNA probes, including molecular markers to practically all human chromosomes [1, 2], and various conditions of hybridization provides an effective method for detecting unknown markers. Marker chromosomes investigated in this study were derivatives of chromosomes 7, 9 (two cases), 13, 14, 21 (two cases), X and Y.

UI MeSH Term Description Entries
D008607 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) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D002871 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. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002877 Chromosomes, Human Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual. Chromosome, Human,Human Chromosome,Human Chromosomes
D004276 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. Satellite DNA,Satellite I DNA,DNA, Satellite I,DNAs, Satellite,DNAs, Satellite I,I DNA, Satellite,I DNAs, Satellite,Satellite DNAs,Satellite I DNAs
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000013 Congenital Abnormalities Malformations of organs or body parts during development in utero. Birth Defects,Congenital Defects,Deformities,Fetal Anomalies,Fetal Malformations,Abnormalities, Congenital,Defects, Congenital,Abnormality, Congenital,Anomaly, Fetal,Birth Defect,Congenital Abnormality,Congenital Defect,Defect, Birth,Defect, Congenital,Deformity,Fetal Anomaly,Fetal Malformation,Malformation, Fetal
D015342 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. Chromosomal Probes,DNA Hybridization Probe,DNA Probe,Gene Probes, DNA,Conserved Gene Probes,DNA Hybridization Probes,Whole Chromosomal Probes,Whole Genomic DNA Probes,Chromosomal Probes, Whole,DNA Gene Probes,Gene Probes, Conserved,Hybridization Probe, DNA,Hybridization Probes, DNA,Probe, DNA,Probe, DNA Hybridization,Probes, Chromosomal,Probes, Conserved Gene,Probes, DNA,Probes, DNA Gene,Probes, DNA Hybridization,Probes, Whole Chromosomal
D017403 In Situ Hybridization A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. Hybridization in Situ,Hybridization, In Situ,Hybridizations, In Situ,In Situ Hybridizations

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