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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 study the allele frequencies of six short tandem repeats (STR) loci in Henan Han population and to obtain population genetic data. Methods DNA was extracted from 140 unrelated Henan Han individuals by phenol-chloroform method. The DNA of D12S391, D5S818, D18S51, PAHI3, D8S1179 and D3S1358 were amplified by multiplex PCR and polyacrylamide gel electrophoresis Genotypes of loci in Henan population were analyzed. Results The frequency distribution of genotypes of six loci were in accordance with the Hardy-Weinberg equilibrium. The observed heterozygosities at the loci were 0.871, 0.769, 0.871, 0.773, 0.901 and 0.722, respectively. The cumulative individual recognition rates of 6 loci were 0.9999998, The cumulative non-parent exclusion rate was 0.99845 and the cumulative individual matching rate was 2.39 × 10-7. CONCLUSION: Six loci have high non-father exclusion rate and individual recognition rate in Henan Han population, and have certain value in forensic science and population genetics research.