中国汉族群体5个STR分子遗传标记多态性研究

Study of Five STR Loci in A Chinese Han Population

为了解中国人5个STR基因座等位片段结构特征,获得汉族群体D2S2955、D3S4014、D20S604、D22S689和GATA198B05基因座的群体遗传学数据。采取成都地区无血缘关系汉族个体血样EDTA抗凝血,Chelex法提取DNA,PCR扩增,非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳分型,自动激光荧光测序仪测定DNA序列。序列分析显示,中国人D2S2955、D3S4014、D20S604基因座具有简单重复序列,而D22S689、GATA198B05基因座具有复杂重复序列。5个STR基因座在成都汉族群体中均具有遗传多态性。揭示了我国汉族人群5个STR基因座的等位基因片段结构特征,为人类群体遗传研究提供了数据,建立的不连续缓冲系统水平电泳分型方法为检测这5个STR基因座提供了简便技术。

To understanding the allele structure and genetic polymorphisms at five STR loci in Chinese Han population, and construct a preliminary database, EDTA-blood specimens were collected from unrelated individuals. DNA samples were extracted with Chelex method and were amplified by PCR technique. The PCR products were analyzed using both PAGE horizontal electrophoresis with discontinuous buffer system and automated fluorescence detection approach. As a result, three STRs consist of simple repeat motifs, while two STR contain a complex repeat structure. The STR polymorphisms at all of the five loci have been observed in Chinese Han population. In a word, the obtained data are beneficial to understanding the population genetics of the five STR loci in Chinese Han population. As a simple approach, the PAGE horizontal electrophoresis can be employed for typing the five STR markers.