上海地区葡萄糖-6-磷酸脱氢酶基因突变分析  

Analysis of G6PD gene mutations in Shanghai

作　　者：张德太[1] 樊绮诗[2] 杨伟宗[2] 

机构地区：[1]华中科技大学同济医学院附属协和医院检验科,湖北武汉430022 [2]上海第二医科大学附属瑞金医院,上海200025

出　　处：《医学研究生学报》2002年第4期298-300,共3页Journal of Medical Postgraduates

摘　　要：目的 :了解上海地区葡萄糖 6 磷酸脱氢酶 (G6PD)缺乏的基因突变型及其主要临床表现。　方法 :观察 45例上海地区G6PD缺乏患者的主要临床表现 ,测定红细胞G6PD活性并用PCR 限制性内切酶酶解分析法进行G6PD基因突变分析。　结果 :共发现了五种基因突变型 ,分别是cDNA1376G→T(31.2 % )、cDNA1388G→A(2 8.9% )、cD NA95A→G (2 0 .0 % )、cDNA10 2 4C→T(4 .4% )和cDNA493A→G(6 .6 % )。　结论 :上海地区常见的三种G6PD基因型 (cDNA1376G→T ,cDNA1388G→A和cDNA95A→G)占 80 .1% ,酶活性均低于正常人的 10 % ,临床表现以蚕豆病。Objectives:In order to understand the G6PD gene mutations in Shanghai of China and the relationship between G6PD gene structure and clinical symptoms. Methods: Forty-five patients with G6PD deficiency were studied by quantitative analysis of G6PD activity in red cells, the point mutations of G6PD were detected by mismatch-PCR/RE. Results:Five mutations including cDNA1376(G→T), cDNA1388 (G→A), cDNA1024(C→T), cDNA95 (A→G), cDNA592 (C→T), cDNA487 (G→A), cDNA493 (A→G) and cDNA1360 (C→T) were observed in Shanghai of China. Conclusions:Three common G6PD gene point mutations(cDNA1376 G→T, cDNA1388 G→A and cDNA95 A→G) count up to 80.1% in Shanghai area. The G6PD activities of these individuals are 10% lower than those of healthy. The clinical presentations of these subjects are acute hemolytic anemia trigged by ingestion of favabean or drugs and neonatal jaundice.

关 键 词：上海 葡萄糖-6-磷酸脱氢酶 葡萄糖-6-磷酸脱氢酶缺乏 基因突变型 聚合酶链反应 临床表现 

分 类 号：R596[医药卫生—内科学]