G6PD VIENTIANE - NEW GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT WITH INCREASED STABILITY

被引：7
作者：
KAHN, A
NORTH, ML
COTTREAU, D
GIRON, G
LANG, JM
OBERLING, F
机构：
[1] CTR TRANSFUS SANGUINE, F-67000 STRASBOURG, FRANCE
[2] CTR HOSP UNIV STRASBOURG, MALAD SANGUINE CLIN, F-67000 STRASBOURG, FRANCE
来源：
HUMAN GENETICS | 1978年 / 43卷 / 01期
关键词：
D O I：
10.1007/BF00396482
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A new G6PD variant, called G6PD Vientiane, has been discovered in a patient from Laos. The characteristics of this variant are: mild enzyme deficiency (about 50% of the normal activity) in the granulocytes and the red cells, with normal G6PD-related antigen concentration; increased stability; normal Km glucose 6-phosphate and NADP+; increased inhibition constant by NADPH; decreased inhibition by ATP; slightly increased utilization of the substrate analogue; abnormal pH curve, with maximum activity at pH 9.5; slightly reduced starch gel electrophoretic migration. The implications of the molecular stability of a deficient mutant variant are discussed. © 1978 Springer-Verlag.
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页码：85 / 89
页数：5
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