新疆维吾尔族群体线粒体DNA高变区Ⅰ遗传多态性

Sequence polymorphism of mitochondrial DNA hypervariable region Ⅰ of Uyghur group in Xinjiang

[目的]研究维吾尔族群体线粒体DNA高变区Ⅰ序列遗传多态性。[方法]收集240份新疆8个地域维吾尔族无关个体mt DNA高变区Ⅰ进行测序分析。[结果]发现多态性位点数为:喀什、和田、库车、且木、伊犁、哈密、吐鲁番、尉犁维吾尔族分别为75、98、59、111、75、46和94。单倍型多样性分别为:喀什群体为0.996±0.014,和田群体为0.993±0.014,库车群体为0.993±0.015,且木群体为0.993±0.014,伊犁群体为0.993±0.013,哈密群体为0.995±0.012,吐鲁番群体为0.993±0.012,尉犁群体为0.994±0.023。用HVRⅠ序列多态性数据计算Fst和d A两种遗传距离,相关系数为r=0.993(P<0.01)。[结论]中国的维吾尔族人群mt DNA其遗传多态性和个体识别力比较高,并且维吾尔族群体是东亚与欧洲人群的过渡人群,这些数据可用于法医学、人类学、遗传制图个体识别等领域研究。

[Objective] To study the genetic polymorphisms of the mtDNA HVRⅠregion in Xinjiang Uyghur ethnic group.[Methods]Sequence polymorphisms of 240 unrelated eight region Uyghur ethnic group mtDNA hypervariable regions（HVR-Ⅰ） were determined by PCR and direct sequencing.[Results]75,98,59,111,75,46 and 94 polymorphic loci in HVRⅠ were found in eight region Uyghur ethnic group in Xinjiang（Kashgar,Hotan,Kuqa,Qiemo,Yili,Hami,Turpan,Yuli,respectively）mtDNA sequence. Haplotype diversity were 0. 961 ± 0. 014,0. 976 ± 0. 014,0. 976 ± 0. 015,0. 979 ± 0. 014,0. 982 ± 0. 013,0. 991 ± 0. 012,0. 982 ± 0. 011,0. 961 ± 0. 023 in HVRⅠ（Kashgar,Hotan,Kuqa,Qiemo,Yili,Hami,Turpan,Yuli,respectively）. Fst and d A genetic distance between eight region Uyghur group were calculated based on HVRⅠsequence,and their relative coefficients were 0. 993（P〈 0. 01）. [Conclusion] The genetic polymorphism of mtDNA HVRⅠin Xinjiang Uyghur group has some specificities compared with that of other populations and Xinjiang Uyghur group take genetic position between East Asians and Europeans. These data provide a useful tool in forensic identification,population genetic study and other research fields.