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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（ＡＳＯｄｏｔｂｌｏｔ）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ＨｈａⅠ和天然ＭｂｏⅡ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ｃＤＮＡ１?
Objective To understand the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we conducted a systematic study on the genetic level of 56 male G6PD-deficient patients in Guangxi. Methods DNA fragments containing G6PD gene Ⅱ, Ⅴ, Ⅵ, Ⅶ, Ⅷ, Ⅸ, Ⅹ, Ⅺ, Ⅻ and exons were amplified by polymerase chain reaction (PCR) (G → A), cDNA493 (A → G), cDNA592 (C → T), cDNA835 (A → T), cDNA1311 (C → T), cDNA1360 (A → G) and cDNA1024 (C → T) were detected by using Hha Ⅰ and Mbo Ⅱ restriction enzyme digestion techniques. )mutation. Results Sixty-six cases of G6PD-deficient male Guangxi were detected 6 types of gene mutations: cDNA1376 (G → T) (25.0%), cDNA1388 (G → A) (A → G) (19.8%), cDNA592 (C → T) (7.1%), cDNA1024 , Unknown mutation 28.6%. Did not find cDNA1?