尼泊尔人群样本中26个基因座Y染色体短串联重复序列单倍型的多样性：喜马拉雅地区的隔离与漂变
Diversity of 26-locus Y-STR haplotypes in a Nepalese population sample: isolation and drift in the Himalayas.
作者信息
Parkin Emma J, Kraayenbrink Thirsa, Opgenort Jean Robert M L, van Driem George L, Tuladhar Nirmal Man, de Knijff Peter, Jobling Mark A
机构信息
Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
出版信息
Forensic Sci Int. 2007 Mar 2;166(2-3):176-81. doi: 10.1016/j.forsciint.2006.05.007. Epub 2006 Jun 15.
Twenty-six Y-chromosomal short tandem repeat (STR) loci were amplified in a sample of 769 unrelated males from Nepal, using two multiplex polymerase chain reaction (PCR) assays. The 26 loci gave a discriminating power of 0.997, with 59% unique haplotypes, and the highest frequency haplotype occurring 12 times. We identified novel alleles at four loci, microvariants at a further two, and nine examples of amelogenin-Y deletions (1.2%). Comparison with a similarly sized Bhutanese sample typed with the same markers suggested histories of isolation and drift, with drift having a greater effect in Bhutan. Extended (11-locus) haplotypes for the Nepalese samples have been submitted to the Y-STR Haplotype Reference Database (YHRD).
使用两种多重聚合酶链反应（PCR）检测方法，在来自尼泊尔的769名无关男性样本中扩增了26个Y染色体短串联重复序列（STR）位点。这26个位点的鉴别力为0.997，单倍型独特率为59%，出现频率最高的单倍型出现了12次。我们在4个位点鉴定出了新等位基因，在另外2个位点发现了微变体，还有9例牙釉蛋白-Y缺失（1.2%）。与用相同标记分型的规模相当的不丹样本进行比较，结果表明存在隔离和漂变的历史，且漂变在不丹的影响更大。尼泊尔样本的扩展（11个位点）单倍型已提交至Y染色体STR单倍型参考数据库（YHRD）。
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