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- W95797659 abstract "The presence of telomere variant repeat units in the proximal regions of human telomeres has been demonstrated but the distribution of these repeats and the extent of allelic variation has not been examined. We have developed a PCR based system to assay the distribution of standard (TTAGGG) and variant (TGAGGG, TCAGGG) repeats at the proximal end of the Xp:Yp telomere repeat array. The 1 kb of DNA immediately adjacent to this telomere exhibits a high level of base substitutional polymorphism. In individuals heterozygous for a flanking polymorphism, allele specific primers have been designed to discriminate between the alleles and, in conjunction with a primer complementary to either TTAGGG, TGAGGG or TCAGGG repeats, to determine the distribution of telomere and variant repeat units at the proximal end of an individual telomere. Among the 41 Xp:Yp telomeres mapped to date only 5 are identical and composed solely of (TTAGGG) repeats at the proximal end. The remaining 36 mapped telomeres are all different, although a subset show similarities and are found in association with the same flanking DNA haplotype, suggesting a common ancestry. The telomere variant repeat mapping technique can be used to examine the turnover of these sequences in human populations andmore » in somatic tissues and tumors.« less" @default.
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- W95797659 date "1994-09-01" @default.
- W95797659 modified "2023-09-23" @default.
- W95797659 title "Extreme variability in the Xp:Yp pseudoautosomal telomere revealed by telomere variant repeat mapping" @default.
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