成都汉族群体八个STR基因座遗传多态性研究  

Genetic polymorphisms of eight STR loci in a Chinese Han population

作　　者：侯一平[1] 李英碧[1] 唐剑频[1] 吴谨[1] 张思仲[2] 张霁[1] 褚嘉佑[3] Mechthild Prinz 

机构地区：[1]华西医科大学法医学院,成都610041 [2]华西医科大学医学遗传学教研室,成都610041 [3]中国医学科学院医学生物学研究所 [4]Departmetn of Forensic Biology,Office of Chief Medical Examiner,NewYork,USA

出　　处：《中华医学遗传学杂志》2000年第4期236-240,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金!重大项目 (3999342 0 );美国纽约中华医学基金!项目 (96- 636);四川省重点科研项目!(970 1 2 1 52 30 1 )

摘　　要：目的　了解中国人 8个 STR基因座等位片段结构特征 ,获得汉族群体的遗传数据。方法EDTA抗凝血样采自成都地区无亲缘关系汉族个体。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 ,成都汉族人8个 STR基因座中 ,5个 STR基因座具有简单重复序列 ,3个 STR基因座具有复杂重复序列。 8个 STR基因座在成都汉族群体中均具有遗传多态性。 8个 STR基因座累积非父排除概率及累积个人识别机率分别为 0 .9978和 0 .999999992。结论　揭示了我国汉族人群 8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。对法医遗传学而言 ,为应用这些遗传标记在我国人群中进行亲子鉴定和个人识别提供了概率计算依据。Objective To understand the allele structure and genetic polymorphism at eight STR loci in Chinese Han population and construct a preliminary database. Methods EDTA blood specimens were collected from the unrelated individuals in Chengdu, China. The DNA samples were extracted with Chelex method and were amplified by PCR technique. The PCR products were analyzed by the PAG horizontal electrophoresis with discontinuous buffer system and by the approach of the automated fluorescence detection. Results Five STR loci consist of simple repeat motifs, while three STR loci contain complex repeat structures. The STR polymorphisms at all of the eight loci have been observed in Chinese Han population. According to the obtained data, the combined exclusion probability and the combined discrimination power for these STR markers in Chinese population are 0.9978 and 0.999 999 992, respectively. Conclusion The obtained data are beneficial to understanding the population genetics of the eight STR loci in Chinese Han population. For forensic genetics, the obtained data can be used to calculate the probabilities dealing with the paternity test and the individual identification.

关 键 词：遗传多态性 短串联重复序列 汉族群体 成都 PCR 

分 类 号：R394[医药卫生—医学遗传学] Q347[医药卫生—基础医学]