Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency

被引：15

作者：

Minucci, Angelo ^{[1
]}

Concolino, Paola ^{[1
]}

Antenucci, Mirca ^{[1
]}

Santonocito, Concetta ^{[1
]}

Ameglio, Franco ^{[1
]}

Zuppi, Cecilia ^{[1
]}

Giardina, Bruno ^{[1
]}

Capoluongo, Ettore ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Lab Clin Mol Biol, Dept Biochem & Clin Biochem, I-00168 Rome, Italy

来源：

CLINICAL BIOCHEMISTRY | 2007年 / 40卷 / 12期

关键词：

favism; G130A mutation; G6PD Rignano; Ala44Thr;

D O I：

10.1016/j.clinbiochem.2007.03.025

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

We report a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate debydrogenase (GOD) activity. A novel genetic mutation (G130A) in the third exon was found. We named this novel mutation the "G6PD RIGNANO variant". These findings may contribute to a better knowledge of molecular epidemiology of the G6PD mutation and may represent an additional variant to be studied for a deep comprehension of in vivo compensation mechanisms of G6PD deficiency. (c) 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

引用

页码：856 / 858

页数：3

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