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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.

DOI:10.1111/j.1423-0410.1982.tb00533.x
PMID:7123903
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。

相似文献

1
G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.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。
Vox Sang. 1982;43(2):102-4. doi: 10.1111/j.1423-0410.1982.tb00533.x.
2
G6Pd Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.G6Pd金泽:一种与先天性非球形细胞溶血性贫血相关的葡萄糖-6-磷酸脱氢酶新变体。
Acta Haematol. 1982;68(2):131-5. doi: 10.1159/000206964.
3
Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum.家族性淀粉样多神经病(FAP)患者中的慢性非球形细胞溶血性贫血(CNSHA)和葡萄糖6磷酸脱氢酶(G6PD)缺乏症。对具有明显酸性最适pH值的新变体(G6PD Clinic)的分子研究。
Hum Genet. 1989 Jan;81(2):161-4. doi: 10.1007/BF00293894.
4
G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.G6PD-利蒙港:一种与先天性非球形红细胞溶血性贫血相关的葡萄糖-6-磷酸脱氢酶新缺陷变体。
Hum Genet. 1982;62(2):110-2. doi: 10.1007/BF00282295.
5
A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote.一种伴有先天性非球形红细胞溶血性贫血的新型葡萄糖-6-磷酸脱氢酶变异体(G6PD热那亚型)。杂合子中的生化特征及嵌合体表达
Hum Genet. 1990 Mar;84(4):337-40. doi: 10.1007/BF00196229.
6
Glucose-6-phosphate dehydrogenase Velletri.葡萄糖-6-磷酸脱氢酶 韦莱特里
Acta Haematol. 1977;57(2):121-26. doi: 10.1159/000207869.
7
G6PD Sendagi: a new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia.仙台G6PD:一种与先天性溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶变异体。
Hum Genet. 1983;65(2):214-5. doi: 10.1007/BF00286669.
8
Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France.Gd(-) 雷恩,一种与先天性非球形红细胞溶血性贫血相关的葡萄糖-6-磷酸脱氢酶新的缺陷变体,在法国被发现。
Hum Genet. 1980;55(1):125-7. doi: 10.1007/BF00329139.
9
Glucose-6-phosphate dehydrogenase Beaumont: a new variant with severe enzyme deficiency and chronic nonspherocytic hemolytic anemia.葡萄糖-6-磷酸脱氢酶博蒙特型:一种伴有严重酶缺乏和慢性非球形红细胞溶血性贫血的新变体。
Enzyme. 1985;34(1):15-21. doi: 10.1159/000469354.
10
Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita.在日本发现三种与先天性非球形红细胞溶血性贫血相关的新的电泳正常的葡萄糖-6-磷酸脱氢酶变异体:G6PD 荻洼型、横滨型和秋田型。
Hum Genet. 1978 Nov 24;45(1):11-7. doi: 10.1007/BF00277568.

引用本文的文献

1
G6PD deficiency in Latin America: systematic review on prevalence and variants.拉丁美洲的葡萄糖-6-磷酸脱氢酶缺乏症:患病率及变异的系统评价
Mem Inst Oswaldo Cruz. 2014 Aug;109(5):553-68. doi: 10.1590/0074-0276140123. Epub 2014 Aug 19.
2
Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes.拉丁美洲和加勒比地区人群中 G6PD 缺乏症的临床并发症:系统评价及对消除疟疾规划的影响。
Malar J. 2014 Feb 25;13:70. doi: 10.1186/1475-2875-13-70.
3
Glucose-6-phosphate dehydrogenase (G6PD) Guantánamo and G6PD Caujerí: two new glucose-6-phosphate dehydrogenase-deficient variants found in Cuba.
Biochem Genet. 1987 Apr;25(3-4):231-8. doi: 10.1007/BF00499316.