| 摘要: |
| 高海拔世居民在缺氧、寒冷的环境下能够很好地生存。从生理角度分析,高海拔世居民具有较低血红蛋白浓度、更高的一氧化氮水平等特点。近年来的研究显示这些适应性的改变是具备遗传学基础的,这些研究给我们提供了多个基因在高原人群中的特征,例如EPAS1、EGLN1、CBARA1、VAV3、PPARA、eNOS等,涉及缺氧诱导途径、红细胞的生产以及血管舒张性物质的产生等。这些研究结果从遗传学角度给我们提供了新的线索,为我们揭示高原性自然环境选择的独特性、加深对高原疾病发生机制的理解、治疗和避免高原性疾病的发生提供了新的研究思路和策略。 |
| 关键词: 高原适应性 EPAS1 缺氧诱导因子 遗传适应 |
| DOI：10.3724/SP.J.1008.2014.01126 |
| 投稿时间：2014-02-16修订日期：2014-06-05 |
| 基金项目:国家自然科学基金(31330038). |
|
| High altitude adaption: advance in genetics |
| BO Lei1,ZHAO Zhi-wen1,LIU Jin-xiu2,HUANG Jing2,DUAN Wen-yuan2* |
(1. Department of Clinical Diagnosis, No. 456 Hospital of PLA, Jinan 250031, Shandong, China;
2. The Cardiovascular Research Institute, General Hospital, PLA Jinan Military Area Command, Jinan 250022, Shandong, China
*Corresponding authors) |
| Abstract: |
| The indigenous populations of high altitude, physiologically with lower concentration of hemoglobin and higher level of nitric oxide, can be well-adapted to hypoxia and cold environment. Recent studies have revealed that these adaptive highland population possessed genetic bases, which involved a number of genes, such as EPAS1, EGLN1, CBARA1, VAV3, PPARA, and eNOS, associating with hypoxia-inducible pathway, production of red blood cells and vasodilator substances, etc. These findings provided new insights and strategies from genetics to uncover the unique natural environment selection, to understand the mechanisms of plateau diseases, finally to better prevent and treat them. |
| Key words: altitude adaptability EPAS1 hypoxia-inducible factor genetic adaptation |
