上海地区葡萄糖-6-磷酸脱氢酶基因突变分析
JOURNAL OF MEDICAL POSTGRADUATES(2002)
Abstract
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cDNA1376 G→T(31.2%)、cDNA1388 G→A(28.9%)、cDNA95 A→G (20.0%)、cDNA1024 C→T(4.4%)和cDNA493 A→G(6.6%). 结论:上海地区常见的三种G6PD基因型(cDNA1376 G→T,cDNA1388 G→A和cDNA95 A→G)占80.1%,酶活性均低于正常人的10%,临床表现以蚕豆病、药物诱发溶血及新生儿期黄疸为主.
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