江苏汉族人群30个插入/缺失位点的遗传多态性

目的调查30个插入/缺失(insertion/deletion,In Del)位点在江苏汉族人群中的遗传学信息,评估Investigator~ DIPplex试剂盒的使用价值,并用于指导江苏汉族人群的法医学分析。方法用Investigator~ DIPplex试剂盒对江苏地区305名汉族健康无关个体进行常染色体In Del位点的分型检测,统计分析30个In Del位点的频率数据及遗传学参数。结果 30个In Del位点在江苏汉族人群中的分布均符合Hardy-Weinberg平衡,有21个In Del位点的最小等位基因频率大于0.3。多态信息含量为0.089~0.375,个体识别率为0.093~0.500,二联体非父排除率为0.047~0.250,三联体非父排除率为0.046~0.219。30个In Del位点经连锁不平衡分析,各位点之间相互独立,累积个体识别率为1-7.369×10-8,二联体累积非父排除率为0.998 933 978,三联体累积非父排除率为0.997 806 392。除HLD118等5个位点外,群体间Fst值均小于0.06,在群体间差异较小。结论 Investigator~ DIPplex试剂盒中所含有的In Del位点可作为补充遗传标记应用于法医物证学相关检案工作。

Genetic Polymorphism of 30 InDel Loci in Han Population from Jiangsu Province

Objective To investigate the genetic information of 30 insertion/deletion (InDel) loci in Han population from Jiangsu Province, and to explore the application values of Investigator? DIPplex kit for guiding the forensic analysis in Han population from Jiangsu Province. Methods The autosomal InDel loci of 305 unrelated healthy Han individuals from Jiangsu Province were genotyped and analysed by In-vestigator? DIPplex kit, and the allelic frequencies and forensic parameters of 30 InDel loci were statis-tically analysed. Results The distribution of 30 InDel loci in Han population from Jiangsu Province con-formed to Hardy-Weinberg equilibrium. The minor allele frequencies of 21 InDel loci were above 0.3. The polymorphism information content ranged from 0.089 to 0.375, while the discrimination power dis-tributed from 0.093 to 0.500. The paternity exclusion in duo cases and trio cases were 0.047-0.250 and 0.046-0.219, respectively. The linkage disequilibrium analysis of 30 InDel loci showed that all loci were independent from each other. The combined discrimination power was 1-7.369 ×10-8, whereas the com-bined mean exclusion chance in duo cases was 0.998933978, in trio cases was 0.997806392. The Fst values were all less than 0.06 except HLD118 and other four loci, which showed small differences be-tween groups. Conclusion The InDel loci of Investigator ? DIPplex kit can be used as complementary genetic markers for the cases associated with forensic genetics.