title: [Human alpha-satellite DNA specific to chromosomes 13 and 21: use for the analysis of polymorphism of acrocentric chromosomes and the origin of the additional chromosome 21 in Down's syndrome].
abstract: Chromosomal distribution of cloned human alpha-satellite DNA alpha R1-6 has been studied by in situ hybridization technique. The sequence under study has been shown to be predominantly located in the centromeric regions of chromosomes 13 and 21. Intercellular variability of labelling patterns in every person under analysis being insignificant, there exists strong individual variability of interchromosomal distribution of the satellite. This variability leads to the differences of the chromosome labelling density (i.e. the number of satellite DNA copies) both between and within chromosome pairs. The difference in the copy number between two homologues chromosomes, 13 and 21 reaches up to 5 times. No correlation between nondisjunction and the number of copies of alpha-satellite DNA was found. Analysis of individual distribution of satellite between homologues of chromosome 21 provides new possibilities for determination of the origin of extra chromosome in the patients with trisomy 21.
authors.forename: Iu B
authors.initials: IuB
authors.lastname: Iurov
authors.forename: E A
authors.initials: EA
authors.lastname: Selivanova
authors.forename: G V
authors.initials: GV
authors.lastname: Deriagin
mesh_terms: D002503:Centromere; D002882:Chromosomes, Human, Pair 13; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D015342:DNA Probes; D004276:DNA, Satellite / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004276:DNA, Satellite
vernacular_title: Al'fa-satellitnaia DNK cheloveka so spetsifikoĭ dlia khromosom 13 i 21: ispol'zovanie dlia analiza polimorfizma akrotsentricheskikh khromosom i proiskhozhdeniia dopolnitel'noĭ khromosomy 21 pri bolezni Dauna.