Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of southwestern China

作     者：YANG YinFeng, ZHU YueChun, LI DanYi, LI ZhiGang, Lü HuiRu, WU Jing, TANG Jing & TONG ShuFen Department of Biochemistry, Faculty of Basic Medicine, Kunming University of Medical Sciences, Kunming 650031, China These authors contributed equally to this work 

作者机构：1. Department of Biochemistry Faculty of Basic Medicine Kunming University of Medical Sciences Kunming 650031 China 

出 版 物：《Science China(Life Sciences)》 (中国科学（生命科学英文版）)

年 卷 期：2007年第50卷第4期

页      面：479-485页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：Supported by the National Natural Science Foundation of China (Grant No. 30460049) 

主　　题：glucose-6-phosphate dehydrogenase deficiency Achang population G6PD Mahidol gene mutation Myanmar population 

摘      要：The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2―13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen inde-pendent subjects with G6PD Mahidol (487GA) and the new polymorphism IVS5-612 (GC), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376GT) and G6PD Kaiping (1388GA), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.