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对葡萄糖-6-磷酸脱氢酶缺乏症和自然选择的认识现状

Present status of understanding on the G6PD deficiency and natural selection.

作者信息

Tripathy V, Reddy B M

机构信息

Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, Street No. 8, Habsiguda, Hyderabad - 500 007, AP, India.

出版信息

J Postgrad Med. 2007 Jul-Sep;53(3):193-202. doi: 10.4103/0022-3859.33867.

Abstract

G6PD deficiency is a common hemolytic genetic disorder, particularly in the areas endemic to malaria. Individuals are generally asymptomatic and hemolytic anemia occurs when some anti-malarial drugs or other oxidizing chemicals are administered. It has been proposed that G6PD deficiency provides protection against malaria. Maintaining of G6PD deficient alleles at polymorphic proportions is complicated because of the X-linked nature of G6PD deficiency. A comprehensive review of the literature on the hypothesis of malarial protection and the nature of the selection is being presented. Most of the epidemiological, in vitro and in vivo studies report selection for G6PD deficiency. Analysis of the G6PD gene also reveals that G6PD-deficient alleles show some signatures of selection. However, the question of how this polymorphism is being maintained remains unresolved because the selection/fitness coefficients for the different genotypes in the two sexes have not been established. Prevalence of G6PD deficiency in Indian caste and tribal populations and the different variants reported has also been reviewed.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是一种常见的溶血性遗传疾病,在疟疾流行地区尤为常见。患者通常无症状,在使用某些抗疟药物或其他氧化性化学物质时会发生溶血性贫血。有人提出,G6PD缺乏症可提供对疟疾的保护。由于G6PD缺乏症的X连锁性质,维持多态比例的G6PD缺乏等位基因很复杂。本文对有关疟疾保护假说和选择性质的文献进行了全面综述。大多数流行病学、体外和体内研究都报告了对G6PD缺乏症的选择。对G6PD基因的分析还表明,G6PD缺乏等位基因显示出一些选择特征。然而,由于尚未确定两性中不同基因型的选择/适应度系数,这种多态性如何维持的问题仍未解决。本文还综述了印度种姓和部落人群中G6PD缺乏症的患病率以及所报告的不同变体。

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