COM.on C.A.1:e6/42-52 Online published on May 27, 2007.
doi:10.4236/coca.2007.11006
REVIEW
G6PD Deficiency: Distribution in East and Southeast Asia and Positive Selection by Malaria
PAN Shangling
Department of Pathophysiology, Guangxi Medical University, Nanning 530021, China

　
Editor's Summary: Malaria exerts significant influences on the populations in tropics and subtropics, changes a large number of physical and physiological characters. Some genetic deficiencies relevant to the blood cells show resistibility against malaria, which makes the frequencies of these deficiencies increase in the malaria endemic areas. G6PD deficiency is one of these genetic disorders, and its frequency has increased rapidly in the populations moved from the north to the south in East Asia. (LI Hui, Department of Genetics, Yale University)

ABSTRACT: Glucose-6-phosphate dehydrogenase (G6PD) is the rate-limiting enzyme that catalyses the first step of the hexose monophosphate pathway for pentose phosphate synthesis in cells especially in red blood cells. It exists in almost all microorganisms and higher lives including mammals, insets, bacteria and yeasts. The deficiency of G6PD, which might directly influence the antioxidant capacity of red blood cells and result in haemolytic anemia, favism and neonatal jaundice, is the most common enzymatic deficient disorder in human and affects about 400 million people worldwide. To date, more than 400 G6PD variants and 150 mutations have been defined in the world and the types and frequencies of the mutations are highly region or population specific. This disorder is mainly found in Africa, Mediterranean area, Middle East, Southeast Asia, Pacific islands, and South America where malaria was once or is still epidemic. Therefore, the malaria-oriented G6PD deficiency hypothesis had been put forward for decades. Nevertheless, sufficient and necessary direct evidences are not yet available till now to support the theory. Herein, basing on literature from several fields, especially form data demonstrating the prevalence and distribution of G6PD deficiency and malaria in East and Southeast Asia, and the historical and molecular anthropology of East and Southeast Asian groups, the contribution of malaria to G6PD deficiency in the populations is discussed in order to find possible indirect evidences which are in favor of the malaria selected G6PD deficiency hypothesis.
Key words: G6PD deficiency; incidence; Gene mutation; Southeast Asia; Malaria; Positive Selection
Recieved: May 19,2007; Accepted: May 24, 2007; Corresponding: S.Pan@gxmu.net.cn
　
《现代人类学通讯》第一卷e6篇 第42-52页 2007年5月27日网上发行
特约综述
东亚及东南亚地区G6PD缺陷的地域分布以及疟疾的正选择作用
潘尚领
广西医科大学病理生理学教研室，中国 南宁 530021

编辑提要：疟疾对居住在热带和亚热带地区的人群有极大的影响，改变了人群的大量体质和生理特征。一些与血细胞有关的遗传缺陷反而对疟疾有抗性，使得这些缺陷频率在疟疾流行区增高。G6PD基因缺陷就是其中之一。从东亚北方迁到南方的人群，该缺陷的频率会快速升高。（李辉，耶鲁大学遗传学系）

摘要： 葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase, G6PD）是细胞尤其是红细胞能量代谢磷酸己糖途径的限速酶，广泛存在于哺乳动物、昆虫、细菌、真菌等几乎所有高等和低等生物中。G6PD酶活性的缺乏直接影响到红细胞的抗氧化能力，可导致溶血性贫血、蚕豆病、新生儿高胆红素血症等病患，是人类最常见的酶缺陷病，全球范围内约累及4亿人。目前已发现400多种G6PD变异体，由150多种G6PD基因的突变引起，突变的类型和频率呈现明显的地域或群体特异性。此病主要见于非洲、地中海沿岸、中东、亚洲、太平洋诸岛、南美洲等疟疾曾一度流行的热带和亚热带地区，普遍认为与疟疾的抗性选择有关，但一直缺乏足够和必要的直接证据。本文综合各方面文献，尤其是东亚和东南亚各群体G6PD缺陷发生率和基因突变数据及各地疟疾流行情况、东亚和东南亚人群历史人类学、分子人类学资料，分析疟疾对东南亚人群G6PD缺陷的影响，为疟疾对G6PD缺陷的正选择作用假说提供更多的旁证。
关键词：G6PD缺陷；发病率；基因突变；东南亚；疟疾；正选择
收稿日期：2007年5月19日 修回日期：2007年5月24日 联系人：潘尚领 S.Pan@gxmu.net.cn
　
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