藏、汉族中遗传差异与高原低氧适应研究  

The correlation of genetic variation and high-altitude hypoxia adaption between Tibetans and Han populations

作　　者：李小薇[1] 李翠莹[1] 

机构地区：[1]空军总医院输血科,北京100142

出　　处：《中国输血杂志》2017年第8期877-879,共3页Chinese Journal of Blood Transfusion

基　　金：全军后勤科研重大专项子项(AWS13J004)

摘　　要：高海拔低氧是人类面临的严峻环境考验,容易引起高原病发生,而世居高原人群却对其具有独特的适应性。近年来有研究表明,缺氧诱导因子(hypoxia inducible factors,HIFs)相关的EPAS1、EGLN1/PHD2和HIF-1A基因多态性与表达在藏族、汉族人群中存在显著差异。对于这3种基因的深入研究有助于揭示藏族人适应高原的遗传机制。我们总结了近年来国内外关于EPAS1、EGLN1/PHD2和HIF-1A基因多态性、表达与高原低氧适应之间的关系。High altitude hypoxia possessed a serious threat for human beings, which may easily lead to high altitude sickness. However, those people lived on the plateau for generations have developed unique adaptability to cope with hypoxia. Recent studies have demonstrated that gene variants related to hypoxia inducible factors （HIFs）, such as EPAS1, EGLN1/ PHD2 and HIF-1A genes, presented significant differences between Tibetan and Han populations. Further studies of these three genes may help to reveal the genetic mechanism of how the Tibetans manage to adapt to the plateau environment. This review focuses on the research investigating the connection between high-altitude hypoxia adaption and gene mutation or ex- pression of EPAS1, EGLN1/PHD2 and H1F-1A genes.

关 键 词：高原低氧 高原适应 高原适应性基因 遗传差异 

分 类 号：R457.1[医药卫生—治疗学] P941.74[医药卫生—临床医学]