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首页> 外文期刊>Annals of Human Genetics >Selection and Mutation for α Thalassemia in Nonmalarial and Malarial Environments
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Selection and Mutation for α Thalassemia in Nonmalarial and Malarial Environments

机译：非疟疾和疟疾环境中α地中海贫血的选择和突变

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α thalassemia is the result of the loss of one or both copies of the two human α globin genes. α thalassemia appears to be the most common monogenic disease in the world and is in high frequency where malaria is, or has been, endemic. In nonmalarial environments, α thalassemia is rare and its frequency can be explained by a balance of deletional mutation and purifying selection. In malarial environments, the loss of one or two copies of the four α globin genes in normal diploid genotypes confers resistance (lower mortality) to malaria. Fitness estimates from data from Kenyan and Papua New Guinea populations are used to predict the increase in the -α haplotype (with one deleted gene). The frequency of double deletions (-- haplotypes) is higher in some Asian populations than that of single deletions. In this case, heterozygotes with normal αα haplotypes are expected to have the highest fitness. Overall, this population genetic examination provides an evolutionary framework for understanding the worldwide frequency of α thalassemia and the deletions that cause it in both nonmalarial and malarial environments.
机译：α地中海贫血是两个人类α珠蛋白基因一个或两个拷贝丢失的结果。 α地中海贫血似乎是世界上最常见的单基因疾病，在疟疾流行或已经流行的地方，发病率很高。在非疟疾环境中，α地中海贫血很少见，其发生频率可以通过缺失突变和纯化选择之间的平衡来解释。在疟疾环境中，正常二倍体基因型中四个α球蛋白基因的一两个拷贝丢失会赋予对疟疾的抗性（降低死亡率）。来自肯尼亚和巴布亚新几内亚人口数据的适应度估计值可用于预测-α单倍型（具有一个缺失基因）的增加。在某些亚洲人口中，两次删除（单倍型）的发生频率高于一次删除的频率。在这种情况下，具有正常αα单倍型的杂合子有望具有最高适应性。总体而言，这种群体遗传学检查为了解全球范围内的α地中海贫血的频率以及在非疟疾和疟疾环境中导致其的缺失提供了一个进化框架。

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