上海地区葡萄糖-6-磷酸脱氢酶缺陷基因突变与临床表现分析

Analysis of G6PD gene mutations and clinical presentations in Shanghai area

目的 了解上海地区葡萄糖 6 磷酸脱氢酶 (G6PD)缺陷的基因突变 ,探讨基因突变与临床表现型的可能关系。方法 应用PCR/限制性内切酶酶解分析法对 42例上海地区G6PD缺乏者进行基因型分析。结果 上海地区G6PD缺陷的基因突变主要是 :cDNA 1376G→T(33.3% ) ,cDNA 1388G→A(31.0 % ) ,cDNA 95A→G(2 1.4% ) ,cDNA 10 2 4C→T(2 .4% ) ,cDNA 493A→G(2 .4% )。结论 上海地区G6PD缺陷的基因突变以我国常见的 3种基因型为主 (85 .7% ) ,临床表现为蚕豆病。

Objective To investigate the glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Shanghai area and the relationship between G6PD gene structure and clinical symptoms. Methods 45 patients with G6PD deficiency were diagnosed by quantitative analysis of G6PD activity in red cells, the point mutations of G6PD were detected by mismatched-PCR/RE. Results Five mutations of G6PD including cDNA 1 376 G→T(33.3%), cDNA 1 388 G→A(31.0%), cDNA 95 A→G(21.4%), cDNA 1 024 C→T(2.4%), cDNA 493 A→G( 2.4%) were founded in Shanghai.Conclusion Three common G6PD gene point mutations (cDNA 1 376 G→T, cDNA 1 388 G→A, cDNA 95 A→G)account for 85.7%, the G6PD activities of these individuals are no more than 10% of the population; the clinical presentations of these subjects are acute hemolytic anemia triggered by ingestion of favabean or drugs and neonatal jaundice.