中国江苏地区汉人群五个高多态性短串联重复序列(STR)基因座基因频率分布调查

Allele Frequency Distribution of Five Hyperpolymorphic Short Tandem Repeat Loci for the Han Population in Jiangsu Province, China

为选择有较好基因频率分布的短串联重复序列遗传标记,对中国江苏地区随机汉族人群的D5S818、D19S253、D12S391、D2S1338和D22S684 5个微卫星基因座进行了基因频率分布调查,并评估它们作为法医遗传标记在中国江苏地区汉族群体中的效能。采用Chelex-100法从中国江苏地区无血缘关系汉族个体的血样本105份中提取DNA,特异引物聚合酶链反应,产物经6％变性聚丙烯酰胺凝胶电泳分离,银染检测。这5个STR基因座在中国江苏地区汉人群均显具有高度遗传多态性并符合Hardy-Weinberg定律,它们的个人识别率(DP)范围从D5S818的0.892 8到 D2S1338的 0.952 7,非父排除率(PE)范围从 D5S818的0.538 5到D2S1338的0.690 7不等。5个基因座的联合 DP值和联合 PE分别为0.999 997和0.991 8。在D22S684基因座,首次在汉人群报道的等位基因频率分布与英国Caucasian,Afro-Caribbean和Asian fom the Indian 3个人群相比较,卡方检验有显著差异(P<0.005)。为常规应用这 8个STR遗传标记在中国江苏地区汉人群中进行亲子鉴定和个人识别提供了概率计算依据和群体遗传学数据。

To find highly polymorphic teramericshort tandem repeat (STR) loci suitable for DNA test to Han population, the study of allele frequency distribution of the loci D5S818, D19S253, D12S391, D2S1338 and D22S684 for the Han population in Jiangsu province, China, was performed and their forensic validation was evaluated. Allele and genotype frequencies for five STR loci were established from 105 unrelated Han individuals in Jiangsu by using locus-specific prime polymerase chain reactions (PCR), followed by electrophoresis of the PCR products in denaturing polyacrylamide gels and subsequent detection by silver staining. All loci exhibits a high degree of polymorphism and meets Hardy-Weinberg expectations. The discrimination power(DP)ranges from 0.892 8 for D5S818 to 0.952 7 for D2S1338 and the power of exclusion(PE) ranges from 0.538 5 for D5S818 to 0. 690 7 for D2S1338. The combination of these five STR loci was extremely discriminatd from the combined DP (0. 999 997) and the combined PE (0. 991 8). Among the five STR loci, the distribution of D22S684 in Han population first reported by this study is different from those of Caucasian, Afro-Caribbean and Asian from the India when analyzed by the chi-square test ( P< 0.005). The obtained genetic data can be highly suitable for routine forensic individualization and paternity tests to Han population in Jiangsu province, China.