中国海南岛黎族人群Y染色体上四个微卫星基因座的多态性研究

目的：调查4个Y染色体短串联重复序列（short tandem repeat,STR)基因座的遗传多态在海南岛黎族群体中的分布状况。方法：应用多重聚合酶链反应主增后，用ABI377自动测序仪进行基因扫描分型。结果：在230名无亲缘关系的黎族男性个体中观察到4个Y－STR基因座均有遗传多态性，DYS3891有4种等位基因，DYS390有5种等位基因，DYS391有4种等位基因，DYS393有5种等位基因。获得了黎族群体在4个Y－STR基因座的等位基因频率、基因多样性和单倍型频率数据。结论：为我国不同民族人群Y染色体特异性STR的群体遗传学、法医学提供了可比性资料，对海南岛黎族的起源及进化研究有较大的意义。

Y-chromosome-specific microsatellite variation in Li ethnic groups of Hainan Island, China

Objective The study was conducted to reveal the distribution of genetic polymorphism of four Y chromosome specific short tandem repeat (Y specific STR) loci in Li ethnic groups in Hainan Island, China. Methods Four tetranucleotide STR loci were simultaneously amplified with fluorescently labeled primers, and genotypes were determined with an automated DNA sequencer. Results Among 230 unrelated males, the alleles at the four Y specific STR loci were composed of some complex repeat structure. 4,5,4,5 alleles were observed in loci DYS3891, DYS390, DYS391, DYS393 respectively. A set of human allele ladders for the typing of the four Y specific STRs was obtained in Li ethnic population. Gene diversity index (D) and haplotype diversity data were estimated for the four Y STRs. Conclusion The preliminary study indicates a reference population for detecting male migration events and should be useful in population genetic and forensic applications.