Picat C, Etiemble J, Boivin P, Le Prise P Y
Hum Genet. 1980;55(1):125-7. doi: 10.1007/BF00329139.
A new variant of G6PD with total enzyme deficiency associated with nonspherocytic hemolytic anemia in a 60 year old Frenchman is characterized. Partially purified enzyme revealed slow electrophoretic mobility, decreased G6P affinity, thermal instability, abnormal pH curve with a single peak at pH 5.0, abnormal utilization of 2-deoxy-G6P and deamino NADP. This variant differs from all previously reported variants associated with chronic nonspherocytic hemolytic anemia. Accordingly this variant is designated Gd(-) Rennes.
对一名60岁法国男性中与非球形红细胞性溶血性贫血相关的完全酶缺乏的G6PD新变体进行了特征描述。部分纯化的酶显示出缓慢的电泳迁移率、降低的G6P亲和力、热不稳定性、在pH 5.0处有单峰的异常pH曲线、对2-脱氧-G6P和脱氨基NADP的异常利用。该变体与先前报道的所有与慢性非球形红细胞性溶血性贫血相关的变体不同。因此,该变体被命名为Gd(-)雷恩。