Takizawa T, Fujii H, Takegawa S, Takahashi K, Hirono A, Morisaki T, Kanno H, Oka R, Yoshioka H, Miwa S
Hum Genet. 1984;68(1):70-2. doi: 10.1007/BF00293876.
A new glucose 6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was discovered in Japan. The patient showed hemolytic crises after upper respiratory infections. The enzyme activity was about 3.8% of the normal. The partially purified enzyme revealed slow anodal electrophoretic mobility, high Km NADP, marked thermal-instability, and increased affinity for a substrate analogue (deamino-NADP). A particular characteristic of this enzyme was a biphasic pH curve with a greatly increased activity at low pH values. From these results, this variant was clearly different from hitherto observed G6PD variants, and was designated G6PD Asahikawa.
在日本发现了一种与慢性非球形细胞溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶（G6PD）变体。该患者在上呼吸道感染后出现溶血危象。酶活性约为正常水平的3.8%。部分纯化的酶显示出缓慢的阳极电泳迁移率、高Km NADP、明显的热不稳定性以及对底物类似物（脱氨基-NADP）的亲和力增加。这种酶的一个特殊特征是具有双相pH曲线，在低pH值时活性大大增加。根据这些结果，该变体与迄今观察到的G6PD变体明显不同，被命名为G6PD旭川。
Zotero 插件