Hou Y, Wu J, Li Y, Zhang J, Zhang S, Zhu J, Prinz M
Institute of Forensic Medicine, West China University of Medical Sciences, Chengdu 610041, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):65-69.
To understand the allele structure and reveal genetic polymorphism of Y chromosome specific short tandem repeat (Y-specific STR) loci in Chinese Han population. METHODS: The authors used a set of five Y-specific STR loci which were tetrameric tandem repeat loci chosen from the Genome Database. EDTA-blood specimens were collected from the unrelated individuals. DNA was extracted by Chelex method and amplified by the polymerase chain reaction (PCR). The PCR products were analyzed using both the PAGE horizontal electrophoresis with discontinuous buffer system and the automated fluorescence detection approach. RESULTS: The authors observed that the alleles at the five Y-specific STR loci were composed of some complex repeat structures. They successfully prepared a set of human allele ladders for the typing of the five Y-specific STRs and demonstrated the polymorphisms at the five Y-specific STR loci in Chinese Han population. CONCLUSION: Y-specific STRs are good genetic markers for the purpose of analysis of genetic relationship between populations. This preliminary study not only reveals allele frequencies and haplotype distribution of Y-specific STR in Chinese Han population, but also indicates a reference population for detecting male migration events and for reconstructing paternal history.
了解中国汉族人群Y染色体特异性短串联重复序列（Y特异性STR）位点的等位基因结构，揭示其遗传多态性。方法：作者选用了一组5个Y特异性STR位点，这些位点是从基因组数据库中选取的四聚体串联重复序列位点。采集无关个体的乙二胺四乙酸（EDTA）抗凝血标本。采用Chelex法提取DNA，通过聚合酶链反应（PCR）进行扩增。PCR产物采用不连续缓冲系统的聚丙烯酰胺凝胶电泳（PAGE）水平电泳和自动荧光检测方法进行分析。结果：作者观察到5个Y特异性STR位点的等位基因由一些复杂的重复结构组成。他们成功制备了一套用于5个Y特异性STR分型的人类等位基因阶梯，并证明了中国汉族人群中5个Y特异性STR位点的多态性。结论：Y特异性STR是分析人群间遗传关系的良好遗传标记。这项初步研究不仅揭示了中国汉族人群中Y特异性STR的等位基因频率和单倍型分布，还为检测男性迁移事件和重建父系历史提供了一个参考人群。
