目的调查InvestigatorDIPplex试剂盒中所包含的30个插入/缺失多态性(InDel)位点在新疆维吾尔族人群中的群体遗传学数据,探讨其法医学应用价值。方法应用InvestigatorDIPplex试剂盒对新疆223名维吾尔族无关个体外周血样进行30个InDel分型检测,统计分析各位点的频率数据、群体遗传学参数,并与其他地区人群已有数据进行比较。结果经Bonferroni校正,30个InDel位点不存在连锁不平衡现象;基因型分布在新疆维吾尔族群体中符合Hardy-Weinberg平衡;各位点平均杂合度(Ho)为0.4686,平均个体识别率(DP)为0.6095,累积个体识别率(TDP)为0.999 999 999 995。30个Indel位点的三联体累积非父排除率(CPEtrio)为0.995 478,二联体累积非父排除率(CPEduo)为0.972 007。维吾尔族群体与哈萨克族的遗传关系较近,与非裔美国人的遗传关系较远。结论 InvestigatorDIPplex试剂盒中包含的30个InDel位点在新疆维吾尔族群体中具有较好的遗传多态性,可作为个体识别等特殊检案有效的补充体系。
Objective To investigate the genetic data of 30 insertion deletion polymorphism(InDel) loci included in Investigator DIPplex in Uygur population from Xinjiang, and evaluate its application in forensic medicine. Methods Allele frequencies, population genetics parameters of the 30 InDels were determined in 223 unrelated Uygur individuals with Investigator DIPplex, and they were statistically analyzed and compared with available data of other populations of different races from different regions. Results After Bonferroni's correction, there were no significant departure from Hardy-Weinberg equilibrium or linkage disequilibrium between the loci. The average heterozygosity(Ho) was 0.468 6, the mean discrimination power(DP) was 0.609 5, and the total probability of discrimination power(TDP) reached 0.999 999 999 995. The cumulative probability of exclusion was 0.995 478 in trio cases(CPEtrio) and 0.972 007 in duo cases(CPEduo). The genetic distance between Uygur and Kazakh was closer than those between Uygur and other populations, such as African American. Conclusion Multiplex detection of the 30 InDel loci revealed a moderately high polymorphic genetic distribution in Chinese Uygur population residing in Xinjiang, demonstrating that the InvestigatorDIPplex kit can be used as a supplementary tool for human identity tests, especially in challenging DNA cases.