【摘要】 目的对河南省汉族群体的6个短串联重复序列(short tandem repeat,STR)基因座等位基因频率进行研究,获得河南汉族群体D19S253、D14S306、D18S535、D11S2368、D12S391、D4S2639基因座的群体遗传学数据。方法对133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D19S253、D14S306、D18S535、D11S2368、D12S391、D4S2639 6个基因座在河南地区汉族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0.764、0.854、0.844、0.921、0.813、0.807,6个位点的累积个体识别率为0.999 999 88,累计非父排除率为0.999 31,累计个体匹配率为1.16×10-7。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。更多还原

【Abstract】 Objective To investigate the allele frequencies of 6 short tandem repeats(STR) loci:D19S253,D14S306,D18S535,D11S2368,D12S391 and D4S2639 in the Han population of Henan province in China.Methods DNA was extracted with phenol-chloroform from 133 EDTA-blood specimens of healthy unrelated individuals in Henan population,and multiplex PCR technique and PAGE vertical electrophoresis were used to screen the genotype frequencies of 6 STR(D19S253,D14S306,D18S535,D11S2368,D12S391 and D4S2639) systems in Henan population.Results The result of test for Hardy-Weinberg equilibrium showed that the genotype distribution was correspondent with the expected.The observed heterozygosities of 6 loci were 0.764,0.854,0.844,0.921,0.813 and 0.807 respectively.The calculated discrimination power(DP) was 0.999 999 88,the calculated power of exclusion(PE) was 0.999 31,and the calculated matching probability(PM) was 1.16×10-7 respectively.Conclusion All of the 6 loci in this study have high power of discrimination and exclusion,so they may be very useful genetic markers for individual identification,paternity test and genetics purposes.更多还原