新疆少数民族人群39个STR基因座遗传多态性及族源关系研究

The short tandem repeat (STR) STR typing technique currently have been widely used in the individual identification and paternity test. However, a STR population survey data on ethnic minorities in Xinjiang area has not been well-established. It is therefore increasing questioning for the case identification report based on population survey data from Han nationality for the above mentioned nationality. So it is really required to establish the common STR loci for ethnic minorities population. This proposal intends to collect 1000 oral swabs from unrelated Uygurs,Kazak,Hui and Khalkhas population, and the distribution frequencies of STR loci in total of 39 autosome are tested with GlobalFiler? and AGCU kit fluorescent labeling system. And the population genetic data including the heterozygosity(He) of STR loci, discrimination power (DP),Matching probability（PM） and exclusion probability (EP) are calculated to evaluate its potential medical value. The proposal will establish the population genetic data for Uygurs ,Kazak，Hui and Khalkhas nationality, which will provide sound and reliable basic population genetic data for Forensic Science in Xinjiang minority areas. This proposal will further provide molecular biological basis for the study of ethnic origin and migration for ethnic minorities population following the comparison of allele frequencies among diffrent nationality.

目前STR分型技术已广泛应用于个人识别和亲权鉴定中，但有关新疆少数民族人群STR的群体调查资料还很缺乏，以汉族群体资料为依据计算得出的鉴定意见，在上述民族案件的诉讼中日益受到质疑，因此迫切需要完善新疆主要少数民族常见STR基因座的群体遗传资料。本课题拟在前期工作基础上采集维、哈、回、柯尔克孜族无血缘个体口腔拭子各1000人份，利用荧光标记检测系统对39个常染色体STR 基因座进行检测并获得频率分布，根据检测结果建立四个民族39个基因座的多态信息库，并计算各基因座的杂合度(He)、个人识别能力(DP)、偶合率(PM) 和非父排除率(EP)等群体遗传学参数，评价其法医学应用价值，以期完善上述群体遗传学的数据资料，为新疆少数民族地区法庭科学应用提供可靠的基础数据；同时进一步将所得数据在国内外不同群体之间进行比较，探讨群体间是否存在遗传差异，为民族起源、迁徙等其他研究提供一定分子生物学理论依据。

研究采集了新疆少数民族大量的样本，积累了宝贵的样本资源。利用多色荧光标记STR 基因座的引物，复合扩增结合毛细管电泳分型检测，系统分析了新疆维吾尔族、回族、蒙古族、哈萨克族、乌兹别克族以及柯尔克孜族，共六个民族常染色体、X染色体或Y染色体 STR 基因座的遗传多态性，丰富了六个群体的等位基因频率或单倍型频率分布信息资料，并计算各基因座的杂合度、个人识别率和非父排除率等群体遗传学参数，评价它们的法医学应用价值，为新疆少数民族法医学亲权鉴定和个体识别提供了基础数据，也丰富了新疆少数民族的遗传信息资源；同时所获得群体遗传数据和国内外不同族群进行比较研究，探讨群体间得遗传差异，揭示了群体的遗传背景和遗传结构，也为研究不同族群的群体遗传关系提供分子遗传学证据支持和理论支持。本研究相关成果总发表SCI学术论文7篇，并列通讯作者2篇，并列第一作者1篇，标注基金号7篇。