河南汉族人群六个短串联重复序列基因座遗传多态性分析

Genetic polymorphisms of six short tandem repeat loci in the Han population of Henan province in China

目的对河南汉族人群6个短串联重复序列(shorttandemrepeats,STR)基因座等位基因频率进行研究并获得群体遗传数据。方法对140名无血缘关系河南汉族个体的EDTA抗凝血样用酚-氯仿法提取DNA,应用多重PCR扩增技术结合聚丙烯酰胺凝胶电泳对D12S391、D5S818、D18S51、PAHI3、D8S1179、D3S1358共6个基因座在河南地区人群中的基因型分布进行分析。结果6个基因座的基因型频率分布均符合Hardy-Weinberg平衡,各基因座的观察杂合度分别为0.871、0.769、0.871、0.773、0.901、0.722,6个位点的累积个体识别率为0.9999998,累计非父排除率为0.99845,累计个体匹配率为2.39×10-7。结论6个基因座在河南汉族群体中具有较高的非父排除率和个体识别率,在法医学和群体遗传学研究中有一定的应用价值。

Objective To investigate the allele frequencies of six short tandem repeats (STR) loci D12S391, D5S818, D18S51, PAHI3, D8S1179, D3S1358 in the Han population of Henan province and to obtain preliminary data. Methods DNA was extracted with phenol chloroform from 140 EDTA blood specimens of healthy unrelated individuals in Henan population; multiplex PCR technique and PAGE vertical electrophoresis were used to screen the genotype frequencies of six STR systems in Henan population. Results The test for Hardy Weinberg equilibrium revealed that the genotype distribution was correspondent with the expected . The observed heterozygosities of six loci were 0.871, 0 769, 0.871, 0 773, 0.901, 0.722.The calculated discrimination power is 0.9999998,the caculated power of exclusion is 0.99845,the caculated matching probability is 2.39×10 -7 . Conclusion All of the six loci in this study have high power of discrimination and exclusion; they may be very useful genetic markers for individual identification, paternity test and genetics purposes.