21例葡萄糖-6-磷酸脱氢酶缺乏症基因突变型分析

Gene Mutation Type Analysis of Glucose-6-Phosphate Dehydrogenase Deficiency of 21cases

G6PD是磷酸戊糖旁路代谢的限速酶 ,也是重要的看家酶 .G6PD缺乏症是人类常见的遗传性疾病 .作者应用突变特异性扩增系统 (ARMS) ,对 2 1例G6PD缺乏症患儿进行基因检测 .结果在2 1例患儿中检出G1388A突变 7例 ,G1376T突变 4例 ,A95G突变 3例 ,未定型 7例 .成都常见的G6PD基因突变型为中国人中常见突变型 ,分析四川人群G6PD基因突变型 ,估计基因突变频率 ,可为四川省G6PD缺乏症的临床防治提供理论依据 .

Glucose-6-phosphate dehydrogenase (G6PD) is the key enzyme of Pentose Phosphate Pathway,G6PD deficiency is common hereditary disease. The authors applied Amplification Refractory Mutation System to examine the gene of G6PD deficiency of 21 cases. The results indicated there were G1388A mutation of seven cases, G1376T mutation of four cases,A95G mutation of three cases and uncertain type of seven cases. The common G6PD gene mutation deficiencies of Chengdu belong to that of China. The authors analyzed G6PD g...