藏族人群的高原遗传适应性：血红蛋白与氧亲和力增加并无作用。
High altitude genetic adaptation in Tibetans: no role of increased hemoglobin-oxygen affinity.
作者信息
Tashi Tsewang, Feng Tang, Koul Parvaiz, Amaru Ricardo, Hussey Dottie, Lorenzo Felipe R, RiLi Ge, Prchal Josef T
机构信息
Division of Hematology, University of Utah and Veterans Affairs Medical Center, Salt Lake City, UT, USA.
Research Center for High Altitude Medicine, Qinghai University, Xining, Qinghai Province, China.
出版信息
Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):27-9. doi: 10.1016/j.bcmd.2014.02.003. Epub 2014 Mar 4.
High altitude exerts selective evolutionary pressure primarily due to its hypoxic environment, resulting in multiple adaptive responses. High hemoglobin-oxygen affinity is postulated to be one such adaptive change, which has been reported in Sherpas of the Himalayas. Tibetans have lived on the Qinghai-Tibetan plateau for thousands of years and have developed unique phenotypes, such as protection from polycythemia which has been linked to PDH2 mutation, resulting in the downregulation of the HIF pathway. In order to see if Tibetans also developed high hemoglobin-oxygen affinity as a part of their genetic adaptation, we conducted this study assessing hemoglobin-oxygen affinity and their fetal hemoglobin levels in Tibetan subjects from 3 different altitudes. We found normal hemoglobin-oxygen affinity in all subjects, fetal hemoglobin levels were normal in all except one and no hemoglobin variants in any of the subjects. We conclude that increased hemoglobin-oxygen affinity or increased fetal hemoglobin are not adaptive phenotypes of the Tibetan highlanders.
高海拔主要因其缺氧环境施加选择性进化压力，从而导致多种适应性反应。高血红蛋白-氧亲和力被假定为一种这样的适应性变化，这在喜马拉雅山的夏尔巴人中已有报道。藏族人在青藏高原生活了数千年，并形成了独特的表型，例如免受与PDH2突变相关的红细胞增多症影响，这导致低氧诱导因子（HIF）通路的下调。为了探究藏族人是否也形成了高血红蛋白-氧亲和力作为其遗传适应的一部分，我们开展了这项研究，评估来自3个不同海拔高度的藏族受试者的血红蛋白-氧亲和力及其胎儿血红蛋白水平。我们发现所有受试者的血红蛋白-氧亲和力均正常，除一人外所有受试者的胎儿血红蛋白水平均正常，且所有受试者均无血红蛋白变异体。我们得出结论，血红蛋白-氧亲和力增加或胎儿血红蛋白增加并非藏族高地人的适应性表型。
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