Kitao T, Ito K, Hattori K, Matsuki T, Yoneyama Y
Acta Haematol. 1982;68(2):131-5. doi: 10.1159/000206964.
A new variant of G6PD associated with chronic nonspherocytic hemolytic anemia (CNSHA) in a Japanese male is described. This variant is unique in that it has a normal electrophoretic mobility, normal Km for glucose-6-phosphate and NADP, and a normal utilization of the substrate 2-deoxyglucose-6-phosphate and deamino-NADP. It also shows a decreased thermal stability and a biphasic pH curve. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Kanazawa.
本文描述了一名日本男性中与慢性非球形红细胞溶血性贫血(CNSHA)相关的葡萄糖-6-磷酸脱氢酶(G6PD)新变体。该变体的独特之处在于其具有正常的电泳迁移率、对葡萄糖-6-磷酸和烟酰胺腺嘌呤二核苷酸磷酸(NADP)的正常米氏常数(Km),以及对底物2-脱氧葡萄糖-6-磷酸和脱氨基-NADP的正常利用率。它还表现出热稳定性降低和双相pH曲线。这些特征将该变体与先前报道的与CNSHA相关的变体区分开来,我们将其命名为G6PD金泽。