红细胞葡萄糖6—磷酸脱氢酶(G6PD)缺陷是世界上最多见的遗传性红细胞酶病,累及一亿人以上,受到医学和遗传学界的重视,现将某些研究进展综述如下。G6PD 的变异型G6PD 分子是由两个等大的亚单位组成,每个亚单位分子量约52000,约含氨基酸450个,已知其组成,但氨基酸顺序还没有确定。G6PD缺陷症是X 染色体上控制G6PD 合成的结构基因发生突变,引起酶分子结构变异造成,与异常血红蛋白病类似,属于分子病。但因G6PD 仅占红细胞总蛋白的十万分之一,其提纯和分析很困难,目前无法通过确定酶蛋白的氨基酸顺序来鉴定其 Erythrocyte glucose 6-phosphate dehydrogenase (G6PD) deficiency is the world’s most common hereditary erythrocytic enzyme disease, involving more than one hundred million people, by the medical and genetics community attention, the progress of some studies are as follows. G6PD mutant G6PD molecule is composed of two equally large subunits, each subunit molecular weight of about 52000, containing about 450 amino acids, known composition, but the amino acid sequence has not been determined. G6PD deficiency is a mutation in the structural gene controlling the synthesis of G6PD on the X chromosome, resulting in structural variation of the enzyme molecule, which is similar to the abnormal hemoglobinopathy and belongs to the molecular disease. However, since G6PD only accounts for one hundred thousandth of total erythrocytes, its purification and analysis are very difficult. At present, it is impossible to identify the amino acid sequence of the enzyme protein by determining the G6PD