北京汉族群体30个常染色体InDel位点群体遗传学及法医学研究

Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing

为了调查30个InDel位点在中国北京汉族人群中的群体遗传学数据，并评估其法医学应用价值，文章采集210名北京汉族无关健康个体外周血样，提取样本DNA，采用Investigator DIPplex体系对HLD77等30个InDel位点进行复合扩增，ABl3130XL遗传分析仪进行基因分型，计算常用法医学参数，分析群体遗传差异。经Bonferroni校正，30个InDel位点不存在连锁不平衡现象，基因型分布符合Hardy—Weinberg平衡；各位点DP值为0．2690-0．6330，累积个体识别力（TDP）为0．999999999985；三联体累积非父排除率（CPEtrio）为0．98771049，二联体累积非父排除率（CPEduo）0．94579456。32例STR基因座发生突变的家系样本调查证实上述InDel位点未发现突变。结果表明，Investigator DIPplex试剂盒中包含的30个InDel位点在北京汉族群体中具有较好的遗传多态性，在STR存在突变及微量DNA检材等特殊检案中可作为有效的补充检测体系。

To study the genetic diversities of 30 insertion-deletion （InDel） polymorphisms loci of Han population in Beijing, and to evaluate their forensic application, 210 unrelated healthy individuals of Han population in Beijing were in- vestigated to determine the distributions of allele frequencies by using Investigator DIP system. The PCR products were detected with ABI 3130 XL Genetic Analyzer. Forensic parameters were calculated with relevant statistical analysis soft- ware. As a result, after the Bonferroni correction at a 95% significance level, there were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrittm between the loci. The power of discrimination （DP） var- ies between 0.2690 （HLD118） and 0.6330 （HLD45）, and the combined discrimination power （TDP） for the 30 InDel loci is 0.999999999985. The combined power of exclusion was 0.98771049 in trio cases （CPEtrio） and 0.94579456 in duo cases（CPEduo）. The parentage testing of 32 cases revealed no mutations happened to 30 InDel loci. Multiplex detection of the 30 InDel loci revealed a highly polymorphic genetic distribution in Beijing Han population, which represents a complementary tool in human identification studies, especially in challenging DNA cases.