Kahn A, North M L, Cottreau D, Giron G, Lang J M, Oberling F
Hum Genet. 1978 Jul 12;43(1):85-9. doi: 10.1007/BF00396482.
A new G6PD variant, called G6PD Vientiane, has been discovered in a patient from Laos. The characteristics of this variant are: mild enzyme deficiency (about 50% of the normal activity) in the granulocytes and the red cells, with normal G6PD-related antigen concentration; increased stability; normal Km glucose 6-phosphate and NADP+; increased inhibition constant by NADPH; decreased inhibition by ATP; slightly increased utilization of the substrate analogue; abnormal pH curve, with maximum activity at pH 9.5; slightly reduced starch gel electrophoretic migration. The implications of the molecular stability of a deficient mutant variant are discussed.
在一名来自老挝的患者身上发现了一种名为G6PD万象的新型葡萄糖-6-磷酸脱氢酶(G6PD)变体。该变体的特征如下:粒细胞和红细胞中存在轻度酶缺乏(约为正常活性的50%),G6PD相关抗原浓度正常;稳定性增加;葡萄糖6-磷酸和烟酰胺腺嘌呤二核苷酸磷酸(NADP+)的米氏常数(Km)正常;烟酰胺腺嘌呤二核苷酸磷酸(NADPH)的抑制常数增加;三磷酸腺苷(ATP)的抑制作用降低;底物类似物的利用率略有增加;pH曲线异常,在pH 9.5时活性最高;淀粉凝胶电泳迁移率略有降低。文中讨论了缺陷突变变体分子稳定性的影响。