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Title

Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes
Authors
Chen, H.
Lowther, W.
Avramopoulos, D.
Antonarakis, Stylianos
Published in Human Mutation. 1994, vol. 4, no. 3, p. 208-211
Abstract We report the isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA)n, which was mapped to human chromosomes X and Y (loci DXYS156X and DXYS156Y) by PCR amplification of DNA from a monochromosomal somatic cell hybrid panel (NIGMS panel 2). The (TAAAA)n repeat of loci DXYS156 occurs within a human LINE element at a position where the consensus sequence contains a single TAAAA motif. In 72 unrelated CEPH individuals seven alleles were detected which ranged in size from 125 to 165 bp in 5 bp intervals. The two largest alleles (160 and 165 bp) were observed only in males, which suggests that they were amplified from the Y chromosome DXYS156Y locus. The other 5 alleles were present in two copies in females and in a single copy in males, which suggests that they were amplified from the X chromosome DXYS156X locus. Locus DXYS156X was polymorphic in CEPH families with an observed heterozygosity in females of 46% (27 of 59). Linkage analysis with DNA markers on the X chromosome revealed significant lod scores for a location of DXYS156X close to markers DXS1002 (theta = 0.000; zeta = 8.43), DXYS1X (theta = 0.015; zeta = 17.3), DXS3, and PGK1 in the region of chromosome Xq13. The sequence of DXYS156Y derived from the 165 bp allele has been deposited in Genbank with accession number X71600.
Keywords Alleles — Base Sequence — Chromosome Mapping — DNA/genetics — DNA Primers/genetics — Female — Genetic Markers — Humans — Linkage (Genetics) — Male — Molecular Sequence Data — Oligodeoxyribonucleotides/genetics — Pedigree — Polymorphism, Genetic — Repetitive Sequences, Nucleic Acid — X Chromosome — Y Chromosome
Identifiers
PMID: 7833950
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Structures
Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Citation
(ISO format) 		CHEN, H. et al. Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes. In: Human Mutation, 1994, vol. 4, n° 3, p. 208-211. doi: 10.1002/humu.1380040306 https://archive-ouverte.unige.ch/unige:9154

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Deposited on : 2010-07-12

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