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[人类红细胞葡萄糖-6-磷酸脱氢酶新突变形式的描述]

[Description of new mutant forms of erythrocyte glucose-6-phosphate dehydrogenase in man].

作者信息

Shatskaia T L, Krasnopol'skaia K D, Annenkov G A

出版信息

Genetika. 1975;11(12):116-22.

PMID:5339
Abstract

9 variants of human erythrocyte glucose-6-phosphate dehydrogenase (G6PD) were isolated from erythrocytes of patients with G6PD deficiency and partially purified according to WHO program for stanartization of methods for studying G6PD. The results of physico-chemical study of these enzymes (determination of electrophoretic mobility, kappaM for G6P and NADP, pH optimum and thermostability) permit tu consider 5 of them to be new mutations of G6PD previously not described in literature. The observed high geterogeneity of variants of G6PD in Azerbaijan is discussed.

摘要

从葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患者的红细胞中分离出9种人类红细胞G6PD变体,并根据世界卫生组织关于G6PD研究方法标准化的方案进行了部分纯化。对这些酶的物理化学研究结果(电泳迁移率的测定、G6P和NADP的κM、最适pH值和热稳定性)使我们可以认为其中5种是文献中先前未描述的G6PD新突变。文中讨论了在阿塞拜疆观察到的G6PD变体的高度异质性。

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