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在一个科利家族中发现的一种新的葡萄糖-6-磷酸脱氢酶变体(G-6-PD 卡利安)。

A new glucose-6-phosphate dehydrogenase variant (G-6-PD Kalyan) found in a Koli family.

作者信息

Ishwad C S, Naik S N

出版信息

Hum Genet. 1984;66(2-3):171-5. doi: 10.1007/BF00286595.

Abstract

A new Indian variant of erythrocytic glucose-6-phosphate dehydrogenase (G-6-PD) has been detected in a Koli male subject during population genetic studies. The enzyme variant is characterized by mild enzyme deficiency, slow electrophoretic mobility, low Km for G-6-P, increased utilization of substrate analogues, heat instability and a normal pH optimum curve. From these results this was considered to be a new variant and was designated G-6-PD Kalyan. The family history and routine hematological studies did not reveal any evidence that the G-6-PD Kalyan is associated with any hematological abnormalities or clinical symptoms.

摘要

在群体遗传学研究中,一名科利族男性受试者体内检测到一种新的红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)印度变体。该酶变体的特征为酶轻度缺乏、电泳迁移率缓慢、对G-6-P的米氏常数较低、底物类似物利用率增加、热不稳定性以及正常的最适pH曲线。基于这些结果,该变体被认为是一种新变体,并被命名为G-6-PD卡利安。家族史和常规血液学研究未发现任何证据表明G-6-PD卡利安与任何血液学异常或临床症状有关。

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