不同海拔低氧多样性与EPAS1基因多态性的关联
[Association between diversity of hypoxia at different altitude and the polymorphism of EPAS1 gene].
作者信息
Ke Jin-kun, Yao Yu-feng, Liu Shu-yuan, Shi Lei, Yu Liang, Lin Ke-qin, Tao Yu-fen, Shi Li, Yi Wen, Huang Xiao-qin, Chu Jia-you
机构信息
Department of Medical Genetics, Chinese Academy of Medical Sciences, Kunming, Yunnan, People's Republic of China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):583-8. doi: 10.3760/cma.j.issn.1003-9406.2011.05.026.
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.
目的
研究高海拔低氧环境对内皮PAS结构域蛋白1（EPAS1）基因的选择作用。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对三个藏族群体（海拔约3700米的西藏地区58例样本、海拔约3100米的青海省47例样本、海拔约2500米的云南省43例样本）以及山东省汉族（47例样本，海拔约50米）的EPAS1基因14个单核苷酸多态性位点（SNPs）进行基因分型。
结果
比较山东省汉族、云南省藏族与西藏及青海藏族时，多数SNP等位基因、基因型及单倍型频率存在显著差异。但山东省汉族与云南省藏族之间未发现差异。
结论
EPAS1基因可能受到高海拔低氧诱导选择。
Zotero 插件