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血红蛋白基因多态性与高原低氧适应相关性研究进展

季前^1,2, 孙月梅², 张颖飞², 王荣^1,2, 李文斌^1,2,*

¹甘肃中医药大学药学院，兰州730000；²中国人民解放军联勤保障部队第九四〇医院药剂科，兰州730050

摘要

红细胞中的血红蛋白对氧的结合、运输、释放具有重要的生理作用，是体内发挥携氧-释氧功能的关键蛋白，在脱氧时以T状态存在，在结合氧时以R状态存在。血红蛋白基因多态性可显著改变其氧亲和力。目前的研究主要关注调节血红蛋白构象的内源性或外源性物质，但高原低氧适应与血红蛋白基因多态性相关性的综述较少。本文从血红蛋白珠蛋白肽链的氨基酸置换现象出发，总结了基因多态性对血红蛋白结构与功能的影响，并探讨了高氧亲和力血红蛋白与高原低氧适应性之间的关联，以期为高原低氧适应研究提供新思路。

关键词： 血红蛋白; 基因多态性; 结构功能; 高原低氧适应

Research progress on the correlation between hemoglobin gene polymorphism and high-altitude hypoxia adaptation

JI Qian^1,2, SUN Yue-Mei², ZHANG Ying-Fei², WANG Rong^1,2, LI Wen-Bin^1,2,*

¹College of Pharmacy, Gansu University of Chinese Medicine, Lanzhou 730000, China；²Department of Pharmacy, The 940th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army, Lanzhou 730050, China

Abstract

Hemoglobin in red blood cells is essential for oxygen binding, transport, and delivery, functioning as a molecular switch between the deoxygenated (T-state) and oxygenated (R-state) conformations. Genetic polymorphisms in hemoglobin can significantly alter its oxygen affinity. While current research often focuses on endogenous and exogenous modulators of hemoglobin conformation, the role of these polymorphisms in high-altitude hypoxia adaptation remains less reviewed. This article starts from the phenomenon of amino acid substitution in globin chains, summarizes the effects of gene polymorphism on the structure and function of hemoglobin, and explores the association between high-oxygen-affinity hemoglobin and high-altitude hypoxia adaptation, hoping to provide new ideas for high-altitude hypoxia adaptation research.

Key words: hemoglobin; gene polymorphism; structural function; high-altitude hypoxia adaptation

收稿日期：　　录用日期：

通讯作者：李文斌　　E-mail:

DOI: 10.13294/j.aps.2025.0103

引用本文：

季前, 孙月梅, 张颖飞, 王荣, 李文斌. 血红蛋白基因多态性与高原低氧适应相关性研究进展[J]. 生理学报 2025; 77 (6): 1062-1070.

JI Qian, SUN Yue-Mei, ZHANG Ying-Fei, WANG Rong, LI Wen-Bin. Research progress on the correlation between hemoglobin gene polymorphism and high-altitude hypoxia adaptation. Acta Physiol Sin 2025; 77 (6): 1062-1070 (in Chinese with English abstract).