G6PD（都柏林型）：爱尔兰一个家族中因葡萄糖-6-磷酸脱氢酶缺乏导致的慢性非球形红细胞溶血性贫血。
G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.
作者信息
McCann S R, Smithwick A M, Temperley I J, Tipton K
出版信息
J Med Genet. 1980 Jun;17(3):191-3. doi: 10.1136/jmg.17.3.191.
Abstract
A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate 2 deoxy glucose-6-phosphate. It is also relatively heat stable when compared with the normal (B) variant. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Dublin.
摘要
本文描述了在一名爱尔兰男性中发现的一种与慢性非球形红细胞溶血性贫血（CNSHA）相关的G6PD新变体。该变体的独特之处在于其具有正常的电泳迁移率、对G6P和NADP的米氏常数以及正常的最适pH值，同时底物2-脱氧葡萄糖-6-磷酸的利用率显著增加。与正常（B）变体相比，它也相对耐热稳定。这些特征将该变体与先前报道的与CNSHA相关的变体区分开来，我们将其命名为G6PD都柏林变体。
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本文引用的文献
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2
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