高原适应基因中藏族祖先信息位点的研究

摘要

目的 基于高原适应基因上的SNPs位点筛选出藏族祖先信息位点.方法 本研究利用MassARRAY?基因分型系统对183份藏族个体在EGLN1和EPAS1基因上的87个SNPs位点进行分型检测,结合千人数据库中26个世界人群2504份样本的分型数据,进行群体间差异分析,筛选出藏族特异性高的位点作为藏族祖先信息位点(Ancestry informative SNPs, AISNPs),并通过群体间遗传结构对筛选出的位点进行分析评估.结果 在87个高原适应基因SNPs位点中,有23个位点在藏族群体中的频率分布具有特异性,可作为藏族AISNPs.STRUCTURE聚类分析结果表明:在K=2时,藏族人群具有与其他26个人群不同的遗传主成分.结论 本研究筛选出的23个藏族祖先信息位点可合并到现有的祖先推断体系中,进一步增加针对东亚亚人群的分辨率,也可为相关案件提供侦破线索.%Objective Selecting Tibetan ancestry informative SNPs base on high-altitude adaptation genes of Tibetan. Methods We developed a multiplex assay constituted of 87 SNPs located on EPAS1 and EGLN1 genes based on Agena Mas-sARRAY? genotyping system. 183 samples from Tibet plateau were genotyped. The genotypes of 2504 samples from 26 populations were downloaded from the 1000 genomes. Genetic frequency and population structure were analyzed and compared between Tibetan population and worldwide populations. Results SNPs that have distinctive distribution between Tibetan and other populations could be used as Tibetan AISNPs (Ancestry informative SNPs). We selected 23 SNPs has a separated principal genetic component in STRUCTURE result. Conclusion These 23 AISNPs we selected could be combined into ancestry informative SNP panels to improve the resolution of ancestry inference in East Asian, and provide clues for cases of biological material ancestry inference.