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G6PD 巴亚莫型。一种与先天性非球形红细胞溶血性贫血相关的葡萄糖 -6- 磷酸脱氢酶新变体。

G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.

作者信息

Estrada M, García M, Gutiérrez A, Quintero I, González R

出版信息

Vox Sang. 1982;43(2):102-4. doi: 10.1111/j.1423-0410.1982.tb00533.x.

Abstract

A glucose-6-phosphate dehydrogenase (G6PD) variant was studied in a mulatto patient with chronic nonspherocytic hemolytic anemia. This variant has reduced activity, increased thermolability, a reduced Michaelis constant for glucose-6-phosphate, slightly increased electrophoretic mobility, a biphasic pH activity profile, high 2-deoxyglucose-6-phosphate utilization, normal diamino nicotinamide adenine dinucleotide phosphate utilization and a peak of elution profile after G6PD B. The electrophoretic, kinetic, and chromatographic properties of this erythrocyte G6PD variant allow the conclusion that G6PD Varadero is probably a new variant.

摘要

对一名患有慢性非球形细胞溶血性贫血的混血患者的葡萄糖-6-磷酸脱氢酶(G6PD)变体进行了研究。该变体活性降低、热稳定性增加、对葡萄糖-6-磷酸的米氏常数降低、电泳迁移率略有增加、pH活性曲线呈双相、2-脱氧葡萄糖-6-磷酸利用率高、二氨基烟酰胺腺嘌呤二核苷酸磷酸利用率正常且在G6PD B之后洗脱曲线出现峰值。这种红细胞G6PD变体的电泳、动力学和色谱特性表明,G6PD 巴拉德罗变体可能是一种新变体。

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