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'Gd(-) Hôtel Dieu': a new G-6PD variant with chronic hemolysis in a Negro patient from Senegal.

作者信息

Kahn A, Dao C, Cottreau D, Bilski-Pasquier G

出版信息

Hum Genet. 1977 Dec 23;39(3):353-7. doi: 10.1007/BF00295431.

DOI:10.1007/BF00295431
PMID:598844
Abstract

A G-6PD deficiency was detected in a Negro patient from Senegal suffering from congenital nonspherocytic hemolytic anemia. The main characteristics of this variant were: profound defect of G-6PD activity in the red cells, decreased immunologic specific activity, fast electrophoretic mobility, decreased Km-G-6P and normal Km-NADP+, normal inhibition by ATP and NADPH, slightly increased utilization of the substrate analogues, slightly biphasic pH curve, high heat lability, subnormal activation energy. The characteristics of this variant being unique, it was called 'G-6PD Hôtel Dieu.'

摘要

相似文献

1
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Hum Genet. 1977 Dec 23;39(3):353-7. doi: 10.1007/BF00295431.
2
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5
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引用本文的文献

1
Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.对于因葡萄糖-6-磷酸脱氢酶突变导致严重酶缺乏的杂合子，体细胞选择是血细胞表型的主要决定因素。
Am J Hum Genet. 1996 Oct;59(4):887-95.

本文引用的文献

1
Congenital nonspherocytic hemolytic anemia associated with erythrocyte glucose-6-phosphate dehydrogenase deficiency in a Negro family.一个黑人家庭中与红细胞葡萄糖-6-磷酸脱氢酶缺乏相关的先天性非球形细胞溶血性贫血
Pediatrics. 1966 Apr;37(4):624-9.
2
Human glucose-6-phosphate dehydrogenase variants.人类葡萄糖-6-磷酸脱氢酶变体
Bull World Health Organ. 1971;45(2):243-53.
3
A new G-6-PD variant associated with chronic non-spherocytic haemolytic anaemia in a negro family.在一个黑人家庭中发现一种与慢性非球形红细胞溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶（G-6-PD）变异体。
J Med Genet. 1972 Jun;9(2):160-4. doi: 10.1136/jmg.9.2.160.
4
Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group.葡萄糖-6-磷酸脱氢酶研究程序的标准化。世界卫生组织科学小组报告。
World Health Organ Tech Rep Ser. 1967;366:1-53.
5
Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.人类葡萄糖-6-磷酸脱氢酶变体：补充表格
Ann Hum Genet. 1973 Oct;37(2):151-5. doi: 10.1111/j.1469-1809.1973.tb01823.x.
6
[Phenotypes of erythrocytic glucose-6-phosphate dehydrogenase in black people. Examination of 301 black people living in France and description of 9 different variants. High incidence of deficiency of an enzyme of "B" mobility].[黑人红细胞葡萄糖-6-磷酸脱氢酶的表型。对301名居住在法国的黑人进行检测并描述9种不同变体。具有“B”迁移率的一种酶缺乏症的高发病率]
Humangenetik. 1973 May 25;18(3):261-70. doi: 10.1007/BF00290606.
7
Hemolytic anemia and G6PD deficiency.溶血性贫血和葡萄糖-6-磷酸脱氢酶缺乏症。
Science. 1973 Feb 9;179(4073):532-7. doi: 10.1126/science.179.4073.532.
8
Chronic severe hemolytic anemia due to G-6-PD Charleston: a new deficient variant.由G-6-PD查尔斯顿型导致的慢性重度溶血性贫血：一种新的缺陷变异型。
J Pediatr. 1972 Jun;80(6):1005-9. doi: 10.1016/s0022-3476(72)80014-3.
9
[Heterogeneity of erythrocytic glucose-6-phosphate dehydrogenase deficiency in negroes. Kinetic study and description of 2 new variants "Gd(-)Dakar and Gd(-)Mali"].[黑人红细胞葡萄糖-6-磷酸脱氢酶缺乏症的异质性。两种新变异型“Gd(-)达喀尔和Gd(-)马里”的动力学研究及描述]
Nouv Rev Fr Hematol. 1971 Sep-Oct;11(5):741-58.
10
Molecular mechanism of glucose-6-phosphate dehydrogenase deficiency.葡萄糖-6-磷酸脱氢酶缺乏症的分子机制。
Humangenetik. 1974;25(2):101-9. doi: 10.1007/BF00283310.