刑事技术2016，Vol.41Issue(4)：340-344,5.DOI:10.16467/j.1008-3650.2016.04.021
藏汉人群EPAS1、EGLN1基因特异SNP位点遗传多态性
Genetic Polymorphism of SNPs inEPAS1/EGLN1 among Tibetan and Han Populations
摘要
Abstract
ABSTRACT:ObjectiveTo study the genetic polymorphism of 10 SNPs in genes EPAS1 and EGLN1 among 518 unrelated Tibetan individuals from Gansu and Qinghai areas and 134 unrelated Han individuals from 500-meter altitude regions. Methods10 SNP markers (rs12907901, rs13419896, rs150877473, rs1562453, rs186996510, rs2491406, rs2491407, rs4953360, rs4953361, rs7589621) in genesEPAS1 andEGLN1 were selected to analyze their genetic information such as genotype frequency and allele frequency through SNaPshot® Multianalysis kit.ResultsAccording to genotype frequency analysis, no deviation was detected from the Hardy-Weinberg equilibrium in Han population, yet 4 SNPs (rs150877473, rs1562453, rs186996510, rs7589621) in Tibetan population to deviate from the Hardy-Weinberg equilibrium (p<0.05). Meanwhile, significant differences were also observed in the distribution of genotype frequency in 5 SNPs (rs13419896, rs1562453, rs186996510, rs7589621, rs4953360) between the Tibetan and Han populations. The allele frequency analysis showed that there were signiifcant differences in 4 SNPs (rs150877473, rs1562453, rs186996510, rs7589621) between the two populations.ConclusionsThis research veriifed the previous report that there was signiifcant difference between Tibetan and Han populations inEPAS1 andEGLN1 SNPS genes, providing a further support for these SNP genetic markers to be used in the future forensic practice.关键词
EPAS1/EGLN1/SNP/遗传多态性Key words
EPAS1/EGLN1/SNP/genetic polymorphism分类
社会科学引用本文复制引用
杨鑫,胡萌,张子龙,骆继怀,哈飞,马丽英,孙红兵..藏汉人群EPAS1、EGLN1基因特异SNP位点遗传多态性[J].刑事技术,2016,41(4):340-344,5.基金项目
国家自然科学基金资助项目（81302622）；甘肃省青年科技基金计划项目（1308RJYA059）；甘肃省公安厅技术研究计划项目（2016JSYJ01）；河南省科技攻关项目 （）
