和田地区维吾尔族人群线粒体DNA遗传多样性分析

Genetic polymorphisms of mitochondrial DNA in Hetian Uyghur population

目的:分析和田维吾尔族人群线粒体DNA遗传多样性。方法:运用基因芯片技术对411个(高变区Ⅰ、编码区、高变区Ⅱ)SNP位点进行了检测和分型。结果:所测411个SNP位点中83个位点发生了突变,其中A750G、A8860G、T10873C、A25326G、T16189C5个位点的突变率为100%。依据突变位点共划分出25种单倍型。其中,单倍型H2a2a、M、G2a、HV和A有较高的频率(11.36%、9.09%、6.82%、6.82%、6.82%)。52.2%的单倍型属于亚洲单倍型,47.8%的单倍型属于欧洲单倍型,不同地区维吾尔族群体线粒体DNA单倍型有较大差异。结论:和田维吾尔族mtDNA-SNP具有较丰富的遗传多样性,具有明显的亚欧混合现象。维吾尔族母系遗传库较丰富,适用于个体识别、亲子鉴定、疾病诊断。

Objective：To research the genetic polymorphism of mitochondrial DNA from Uyghur population in Hetian. Methods：The 411 sites of the SNP were detected and divided into different types by gene chip technology.Results：In the mutated 83 loci,the mutation rate of 5 locis was 100%,which were A750G,A8860G,T10873C,A25326G and T16189C. According to the mutation site,25 haplotypes were identified.Among which,haplotype H2a2a,M,G2a,HV and A had higher frequency （11.36%,9.09%,6.82%,6.82%,6.82%）.In short,47.8% of the haplotypes came from Europe, 52 .2% of the haplotypes from East Asia,There were significant differences in the mitochondrial DNA haplotypes of Uyghur population in different regions.Conclusion：The mitochondrial DNA SNP of Hetian Uyghur has abundant genetic diversity, which has obvious phenomenon of hybrid.Uyghur matrilineal genetic library is abundant,which is suitable for individual identification,paternity testing and disease diagnosis.