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广西地区葡萄糖 |
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谢建生 龙桂芳 唐智宁 蒋南华 林伟雄
【摘要】 目的 为了深入了解葡萄糖-6-磷酸脱氢酶(G6PD)缺陷症的本质，我们对广西地区56例男性G6PD缺陷症患者从基因水平进行了较为系统的研究。 方法 应用聚合酶链反应分别扩增包含G6PD基因第Ⅱ、Ⅴ、Ⅵ、Ⅶ、Ⅷ、Ⅸ、Ⅹ、Ⅺ、Ⅻ、外显子的DNA片段，并结合等位基因探针点杂交(ASO dot blot)分别检测G6PD基因cDNA392(G→T)、cDNA487(G→A)、cDNA493(A→G)、cDNA592(C→T)、cDNA835(A→T)、cDNA1311(C→T)、cDNA1360(C→T)、cDNA1376(G→T)、cDNA1388(G→A)突变；结合人工介导的Hha Ⅰ和天然Mbo Ⅱ限制性内切酶图谱技术，分别检测cDNA95(A→G)、cDNA1024(C→T)突变。结果 从56例广西籍男性G6PD缺陷者中，共检出6种基因突变类型，分别是cDNA1376(G→T)(25.0%)、cDNA1388(G→A)(16.1%)、cDNA95(A→G)(19.8%)、cDNA592(C→T)(7.1%)、cDNA1024(C→T)(1.8%)、cDNA392(G→T)(1.8%)，未知突变28.6%。未发现cDNA1311(C→T)、cDNA1360(C→T)、cDNA835(A→T)、cDNA487(G→A)、cDNA493(A→G)突变。 结论 G6PD基因突变的研究，对于促进优生优育，提高G6PD缺陷症的诊断和防治水平，加深人们对该病发病机理的认识，对于人类学和遗传学研究有重要价值。
【关键词】 葡萄糖-6-磷酸脱氢酶缺陷症 基因突变 聚合酶链反应
G6PD GENE MUTATIONS IN GUANGXI， CHINA Xie Jiansheng*, Long Guifang, Tang Zhining, Jiang Nanhua, Lin Weixiong.* Department of Pediatrics, Guangxi Medical University, Nanning 530021 P.R.China
【Abstract】 Objective Fifty-six G6PD-deficient male individuals of the Guangxi origin were investigated at the molecular level to understand the basis of G6PD deficiency. Methods PCR amplified the exons 2,5-12 and 13 of the G6PD gene respectively, combined with ASO dot blot hybridization and restriction enzymes digestion methods to screen 10 common Chinese G6PD mutations. Results Six mutations were detected, namely cDNA1376(G→T)(25.0%), cDNA1388(G→A)(16.1%), cDNA95(A→G)(19.8%)，cDNA592(C→T)(7.1%)、cDNA1024(C→T)(1.8%) and cDNA392(G→T)(1.8%). The unknown mutations accounted for 28.6%.cDNA1311(C→T),cDNA1360(C→T),cDNA835(A→T),cDNA493(A→G) and cDNA487(G→A) were not discovered among the cases. Conclusion The findings may provide some useful informations for physician scientists to get insight into the pathogenesis of G6PD deficiency so as to improve clinical diag[1] [2] 下一页
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