中国汉族群体五个STR基因座遗传多态性研究

目的了解中国人５个ＳＴＲ基因座等位片段结构特征，获得汉族群体ＦＧＡ、Ｄ５Ｓ８１８、Ｄ７Ｓ８２０、Ｄ１３Ｓ３１７和Ｄ１６Ｓ５３９基因座的群体遗传数据。方法ＥＤＴＡ抗凝血样采自成都地区无血缘关系汉族个体。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。结果序列分析显示，中国人Ｄ５Ｓ８１８、Ｄ７Ｓ８２０、Ｄ１３Ｓ３１７和Ｄ１６Ｓ５３９基因座具有简单重复序列，而ＦＧＡ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。结论揭示了我国汉族人群５个ＳＴＲ基因座的等位片段结构特征，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五个ＳＴＲ基因座提供了简便技术。

Genetic polymorphisms of five STR loci in a Chinese Han population

bjective To understand the allele structure and genetic polymorphism at five STR loci in Chinese Han population, and construct a preliminary database. Methods EDTAblood specimens were collected from the unrelated individuals.The DNA samples were extracted with Chelex method and were amplified by PCR technique. The PCR products were analyzed using both the PAGE horizontal electrophoresis with discontinuous buffer system and the automated fluorescence detection approach. Results Four STRs consist of simple repeat motifs,while one STR contains a complex repeat structure.The STR polymorphisms at all of the five loci have been observed in Chinese Han population. Conclusion 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.