Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes
✍ Scribed by Haiming Chen; William Lowther; Dimitrios Avramopoulos; Stylianos E. Antonarakis
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 359 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
We report the isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA),, 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), 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 hetemzygosity 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 (8=O.O00; z=8.43), DXYSlX (8=0.015; z = 17.3), DXS3, and PGKl in the region of chromosome Xq13. The sequence of DXYS156Y derived from the 165 bp allele has been deposited in Genbank with accession number X716OO.