葡萄糖-6-磷酸脱氢酶缺陷症的分子机制及相关疾病的研究进展  

Molecular mechanisms underlying glucose-6-phosphate dehydrogenase deficiency and related diseases： the latest study

作　　者：王永化 蒋玮莹 Wang Yonghua;Jiang Weiying(Department of Medical Genetics,Zhongshan School of Medicine,Sun Yat-sen Universit;University and Key Laboratory of Tropical Disease Control,Ministry of Education,Guangzhou 510080,China)

机构地区：[1]中山大学中山医学院医学遗传学教研室、教育部热带病重点实验室,广州510080

出　　处：《国际遗传学杂志》2018年第4期294-299,共6页International Journal of Genetics

基　　金：国家自然科学基金-云南省联合基金重点项目（U1132606）;国家自然科学基金（面上项目）（31171214）

摘　　要：葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase，G6PD）是磷酸戊糖途径的第一个限速酶，其催化生成的还原型NADPH参与机体内多种生物合成途径，并对维持体内氧化-还原平衡状态起到重要作用。G6PD缺陷症是最常见的一种遗传性酶病，在中国呈现出南高北低的分布特点。本文就G6PD缺陷症的分子发病机制及其与疟疾、肿瘤、地中海贫血等疾病发生的相关性研究进展进行综述。Glucose-6-phosphate dehydrogenase （G6PD） is the first key enzyme in the pentose phosphate pathway （PPP）. Its eatalysate--NADPH plays an important role not only in a series of biosynthesis, but also in keeping the balance between oxidizing and reductive substances in the body. G6PD deficiency is one of the most common inherited enzymopathy, and its distribution is higher in the south than the north China. This article summarizes the advances in studies on the molecular pathogenesis of G6PD deficiency, and the correlation between G6PD deficiency and other diseases including malaria, tumor and thalassemia.

关 键 词：G6PD G6PD缺陷症 疟疾 肿瘤 地中海贫血 

分 类 号：R556[医药卫生—血液循环系统疾病]