【摘要】 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Power Stats v1.2软件对各位点进行HardyWeinberg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。更多还原

【Abstract】 Objective To study the genetic polymorphisms of 30 insertion/deletion(InDel) loci and evaluate their forensic application in Ewenki ethnic group from Inner Mongolia. Methods Peripheral blood samples were collected from 87 unrelated healthy individuals in Ewenki ethnic group. Genomic DNA were extracted,and 30 InDel loci of the samples were multiplex amplified and genotyped. Hardy-Weinberg balance tests were preformed for all loci and genetic parameters were calculated by modified Power Stats v1.2 software.The linkage disequilibrium between loci were tested by SNPAnalyzer v2.0 software. Based on the allele frequencies of 30 InDel loci, the genetic relationships between Ewenki ethnic group and other populations were evaluated by analysis of molecular variance, principal component analysis and phylogenetic reconstruction. Results After correction, 30 InDel loci conformed to Hardy-Weinberg equilibrium. It was found that the pairwise InDel loci were in linkage equilibrium after Bonferroni correction. The results of population genetics indicated that Ewenki ethnic group had close genetic relationships with Henan Han and Beijing Han populations; whereas it was significantly different from several populations in Europe and Mexico. Conclusion There are relatively high genetic polymorphisms on 30 InDel loci of Ewenki ethnic group from Inner Mongolia, which can be used as a helpful supplement application for STR detection system.更多还原