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葡萄糖-6-磷酸脱氢酶罗希尼型的特征——一种新的Ⅲ类印度变体

Characterization of G6PD Rohini--a new class III Indian variant.

作者信息

Sayyed Z, Mukherjee M B, Mudera V C, Colah R, Gupte S

机构信息

Institute of Immunohaematology, Bombay.

出版信息

Indian J Med Res. 1992 Apr;96:96-100.

PMID:1428072
Abstract

A new Indian G6PD variant was detected in a 15 yr old Maratha male during a population screening programme in high school children in Bombay (India). The propositus and two family members having the same variant were apparently healthy. This enzyme variant has a mild erythrocyte G6PD deficiency and a slow electrophoretic mobility. It is characterized by a high Michaelis-Menton constant for G6P, a bimodal curve for pH optima and a slight decrease in the thermostability. The rate of utilization of substrate analogue is similar to that of normal. These observations suggest identification of a new class III variant, designated as G6PD Rohini.

摘要

在印度孟买针对高中学生开展的一项群体筛查项目中,一名15岁的马拉地族男性被检测出一种新的印度葡萄糖-6-磷酸脱氢酶(G6PD)变体。先证者及另外两名具有相同变体的家庭成员表面上健康。这种酶变体具有轻度红细胞G6PD缺乏以及缓慢的电泳迁移率。其特征在于对葡萄糖-6-磷酸(G6P)具有较高的米氏常数、pH最适值呈双峰曲线以及热稳定性略有下降。底物类似物的利用速率与正常情况相似。这些观察结果表明鉴定出了一种新的III类变体,命名为G6PD罗希尼。

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