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亚洲人群中酒精脱氢酶ADH1B基因Arg48His位点的选择变异性。

Selection variability for Arg48His in alcohol dehydrogenase ADH1B among Asian populations.

作者信息

Evsyukov Alexey, Ivanov Denis

机构信息

Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.

Faculty of Geography, Lomonosov Moscow State Unibersity, Vorob'evy Gory, Moscow, Russia.

出版信息

Hum Biol. 2013 Aug;85(4):569-77. doi: 10.3378/027.085.0404.

Abstract

The variant His at codon 48 of the alcohol dehydrogenase gene (ADH1B) results in more efficient ethanol metabolism than with the "typical" codon 48Arg. In this study we introduced selection properties of Arg48His genotypes of ADH1B and estimated fitness in four ethnic-geographical clusters in Asia. Population genetics models were employed that derive observed gene frequencies from fitness relationships among genotypes, to infer the selection pattern of polymorphisms in an indirect manner. The data were analyzed using the model of "complete stationary distribution" by Wright that takes into account random genetic drift, pressure of migrations, mutations, and selection as influential factors of gene frequency. We found that the different population groups showed some variation in the types of selection for Arg48His. Han Chinese from eastern and southeastern China and the Japanese and Korean populations showed stabilizing selection, while the groups from Central Asian and Indochina showed divergent selection. However, all the groups demonstrated a strong positive selection for Arg48His.

摘要

酒精脱氢酶基因(ADH1B)第48位密码子的组氨酸变体比“典型的”第48位密码子精氨酸能更有效地代谢乙醇。在本研究中,我们介绍了ADH1B基因第48位密码子精氨酸/组氨酸基因型的选择特性,并估计了亚洲四个种族 - 地理群体的适应性。我们采用群体遗传学模型,从基因型之间的适应性关系推导观察到的基因频率,以间接推断多态性的选择模式。使用赖特的“完全平稳分布”模型分析数据,该模型将随机遗传漂变、迁移压力、突变和选择作为基因频率的影响因素。我们发现不同人群对第48位密码子精氨酸/组氨酸的选择类型存在一些差异。来自中国东部和东南部的汉族以及日本和韩国人群表现出稳定选择,而来自中亚和印度支那的群体表现出分歧选择。然而,所有群体对第48位密码子精氨酸/组氨酸都表现出强烈的正选择。

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