Fujii H, Miwa S, Takegawa S, Takahashi K, Hirono A, Takizawa T, Morisaki T, Kanno H, Taguchi T, Okamura J
Hum Genet. 1984;66(2-3):276-8. doi: 10.1007/BF00286616.
Two new glucose-6-phosphate dehydrogenase (G6PD) variants were discovered in Japan. The first, found in a 9-year-old male, was associated with chronic hemolysis and hemolytic crises after upper respiratory infections. The enzyme activity of the variant was 2.9% of normal. The patient's G6PD showed an increased utilization of substrate analogue, deamino-NADP, and thermal instability. The second variant occurred in a 7-year-old male with drug-induced hemolysis. The main enzymatic characteristics were reduced enzyme activity, being 6.4% of normal, faster-than-normal anodal electrophoretic mobility, slightly high Michaelis constant for glucose-6-phosphate, thermal instability, and biphasic pH optima. Enzymatic properties of these variants allowed each to be distinguished from previously reported variants. The first variant was designated Gd(-)Gifu and the other, Gd(-)Fukuoka.
在日本发现了两种新的葡萄糖-6-磷酸脱氢酶(G6PD)变体。第一种变体发现于一名9岁男性,与上呼吸道感染后的慢性溶血和溶血危象有关。该变体的酶活性为正常的2.9%。患者的G6PD显示底物类似物脱氨基-NADP的利用率增加,且热稳定性差。第二种变体发生在一名7岁男性身上,该男性因药物诱导发生溶血。其主要酶学特征为酶活性降低,仅为正常的6.4%,阳极电泳迁移率高于正常,对葡萄糖-6-磷酸的米氏常数略高,热稳定性差,且pH最适值呈双相性。这些变体的酶学特性使其能够与先前报道的变体区分开来。第一种变体被命名为Gd(-)岐阜,另一种为Gd(-)福冈。