内蒙古鄂温克族人群30个InDel位点遗传多态性

摘要

Objective T o study the genetic polym orphism s of 30 insertion/deletion (InD el) loci and evaluate their forensic application in E w enki ethnic group from Inner M ongolia. Methods Peripheral blood sam ples w ere collected from 87 unrelated healthy individuals in E w enki ethnic group. G enom ic D N A w ere extracted, and 30 InD el loci of the sam ples w ere m ultiplex am plified and genotyped. H ardy-W einberg balance tests w ere preform ed for all loci and genetic param eters w ere calculated by m odified Pow erStats v1.2 softw are. T he linkage disequilibrium betw een loci w ere tested by SN PA nalyzer v2.0 softw are. B ased on the allele frequencies of 30 InD el loci, the genetic relationships betw een E w enki ethnic group and other popula-tions w ere evaluated by analysis of m olecular variance, principal com ponent analysis and phylogenetic re-construction. Results A fter correction, 30 InD el loci conform ed to H ardy-W einberg equilibrium . It w as found that the pairw ise InD el loci w ere in linkage equilibrium after B onferroni correction. T he results of population genetics indicated that E w enki ethnic group had close genetic relationships w ith H enan H an and B eijing H an populations; w hereas it w as significantly different from several populations in E urope and M exico. Conclusion T here are relatively high genetic polym orphism s on 30 InD el loci of E w enki ethnic group from InnerM ongolia,which can be used asa helpfulsupplem entapplication forSTR detection system .%目的 研究30个插入/缺失(insertion/deletion,InDel)位点在内蒙古地区鄂温克族人群中的遗传多态性,并评估其在法医学中的应用价值.方法 采集87名鄂温克族健康无关个体的外周血样,提取基因组DNA,对样本的30个InDel位点进行复合扩增并分型,运用优化的PowerStats v1.2软件对各位点进行Hardy-Weinberg平衡检验及遗传学参数的计算,并采用SNPAnalyzer v2.0软件检验各位点间是否存在连锁不平衡.基于30个InDel位点的等位基因频率进行分子方差分析、主成分分析、系统发育树的构建,探讨鄂温克族与其他群体的关系.结果 30个InDel位点经校正检验后符合Hardy-Weinberg平衡定律.经Bonferroni法校正后,两两配对的InDel位点之间处于连锁平衡状态.群体遗传学研究结果表明,鄂温克族与河南汉族和北京汉族的遗传关系较近,与欧洲和墨西哥地区的族群较远.结论 30个InDel位点在内蒙古鄂温克族人群中具有相对较好的遗传多态性,可作为STR检测体系的有益补充.