一种与先天性溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶变异体（G6PD 津久井）
A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia.
作者信息
Ogura H, Morisaki T, Tani K, Kanno H, Tsutsumi H, Takahashi K, Miyamori T, Fujii H, Miwa S
机构信息
Department of Pathological Pharmacology, University of Tokyo, Japan.
出版信息
Hum Genet. 1988 Apr;78(4):369-71. doi: 10.1007/BF00291738.
A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was found in a 20-year-old Japanese male who showed mild hemolysis after an upper respiratory tract infection. The patient had been noted to have jaundice and reticulocytosis several times before this episode. The enzyme activity of the variant was 1.5% of normal. The enzymatic characteristics were slow anodal electrophoretic mobility, high Km G6P, normal Km NADP, decreased heat stability, and a normal pH optimum. From these results, the enzyme was considered to be a new class 1 variant and was designated G6PD Tsukui.
在一名20岁的日本男性中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轻度溶血。在此之前，该患者曾多次出现黄疸和网织红细胞增多。该变体的酶活性为正常的1.5%。其酶学特征为阳极电泳迁移率缓慢、G6P的Km值高、NADP的Km值正常、热稳定性降低以及最适pH值正常。根据这些结果，该酶被认为是一种新的1类变体，并被命名为G6PD 津久井。
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