The study of Tibetan ancestry informative SNPs on high-altitude adaptive genes

VernacularTitle:高原适应基因中藏族祖先信息位点的研究
Author: Meisha HUANG ¹ ; Quan MA ; Ling WANG ; Xin MA ; Caixia LI ; Li JIANG
Author Information

1. 山西医科大学
Keywords: forensic biological evidence; Ancestry informative SNPs; population genetic structure analysis; High-altitude adaptation genes
From: Chinese Journal of Forensic Medicine 2017;32(6):588-592,602
CountryChina
Language:Chinese
Abstract: 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.