Vergnes H, Ribet A, Bommelaer G, Amadieu J, Brun H
Hum Genet. 1981;57(3):332-4. doi: 10.1007/BF00278958.
Two males subjects are described with hitherto undescribed glucose-6-phosphate dehydrogenase (G6PD) variants. The first is of French ancestry, the second of Sicilian extraction. Each subject suffered from acute hemolytic anemia following ingestion of broad beans (Vicia fava). In both cases the hemolytic crisis occurred in a late period of life (29 and 58 years). No previous hemolytic crisis was recorded. The electrophoretic and kinetic properties of the mutant enzymes examined after purification from the red cells allowed each to be distinguished from other G6PD variants reported until now. The first variant was named Gd(-) Muret, the other Gd(-) Colomiers.
本文描述了两名男性受试者，他们携带迄今未被描述过的葡萄糖-6-磷酸脱氢酶（G6PD）变体。第一名受试者具有法国血统，第二名受试者有西西里岛血统。两名受试者在食用蚕豆（蚕豆属）后均患上急性溶血性贫血。在这两个病例中，溶血性危机均发生在生命晚期（分别为29岁和58岁）。此前均未记录到溶血性危机。从红细胞中纯化后检测的突变酶的电泳和动力学特性，使每个变体都能与迄今报道的其他G6PD变体区分开来。第一种变体被命名为Gd(-) Muret，另一种为Gd(-) Colomiers。
