不同海拔高度低氧环境差异对EPAS1基因多态性的影响

Association between diversity of hypoxia at different altitude and the polymorphism ofEPAS1 gene

目的研究不同海拔高度的低氧环境差异对内皮PAS蛋白1基因（endothelial PAS domain protein1，EPAS1）的选择作用。方法选取西藏藏族58名（居住海拔约3700米）、青海藏族47名（居住海拔约3100米）、云南藏族43名（居住海拔约2500米）、山东汉族47名（居住海拔约50米）的4个不同海拔高度的群体，应用限制性片段长度多态性一聚合酶链反应技术检测EPAS1基因的14个单核苷酸多态性位点。结果在4个群体中，山东汉族、云南藏族与西藏藏族、青海藏族在大部分位点的等位基因频率、基因型频率以及单倍型频率的差异具有统计学意义；但在山东汉族与云南藏族之间的差异无统计学意义。结论海拔高度不同引起的低氧环境差异有可能对基因EPASj有选择作用。

Objective To study the selection effect of endothelial PAS domain protein 1 （EPAS1）gene induced by high altitude hypoxia environment. Methods Fourteen single nucleotide polymorphism sites （SNPs） of the EPAS1 gene were genotyped using PCR-restriction fragment length polymorphism（PCR- RFLP） in three Tibetan groups （58 samples from Tibetan living in an altitude of about 3700 meters above sea level, 47 from Qinghai province, about 3100 meters above sea level, 43 from Yunnan province, about 2500 meters above sea level）, and Han of Shandong （47 samples, about 50 meters above sea level）. Results There were significant differences of most SNP allelic, genotypic and haplotypic frequencies when comparing Han of Shandong, Tibetan of Yunnan with Tibetan of Tibetan and Qinghai. But no difference between Han of Shandong and Tibetan of Yunnan was found. Conclusion The EPAS1 gene might be under hypoxic selection induced by high altitude.