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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。

G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.

作者信息

Elizondo J, Sáenz G F, Páez C A, Ramón M, García M, Gutiérrez A, Estrada M

出版信息

Hum Genet. 1982;62(2):110-2. doi: 10.1007/BF00282295.

DOI:10.1007/BF00282295
PMID:7160841
Abstract

A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.

摘要

在一个哥斯达黎加家庭中发现了一种与先天性非球形细胞溶血性贫血相关的、完全缺乏的新型葡萄糖-6-磷酸脱氢酶（G6PD）变体。对部分纯化酶的研究显示出热不稳定性、对G6P亲和力增加、异常的最适pH值、对类似物利用增加以及一种与先前描述的所有变体不同的色谱行为。因此，这种新变体被命名为G6PD利蒙港变体。

相似文献

1
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.
2
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.
3
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.
4
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.
5
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.
6
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.
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Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge.葡萄糖-6-磷酸脱氢酶变体：一种独特的变体（G6PD神户）对6-磷酸半乳糖表现出极高的亲和力，以及一种类似于G6PD豌豆岭的新变体（G6PD札幌）。
Hum Genet. 1981;58(4):405-7. doi: 10.1007/BF00282823.
8
Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.在患有慢性非球形细胞溶血性贫血、急性溶血性贫血和蚕豆病的波兰葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者中发现了几种突变，包括该基因的两种新突变。
Hum Mutat. 1999;14(6):477-84. doi: 10.1002/(SICI)1098-1004(199912)14:6<477::AID-HUMU6>3.0.CO;2-X.
9
A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia.一种与先天性溶血性贫血相关的新型葡萄糖-6-磷酸脱氢酶变体（G6PD 长野型）
Hum Genet. 1982;62(4):368-70. doi: 10.1007/BF00304560.
10
G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.G6PD（都柏林型）：爱尔兰一个家族中因葡萄糖-6-磷酸脱氢酶缺乏导致的慢性非球形红细胞溶血性贫血。
J Med Genet. 1980 Jun;17(3):191-3. doi: 10.1136/jmg.17.3.191.

引用本文的文献

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Malar J. 2015 Aug 7;14:308. doi: 10.1186/s12936-015-0823-z.
2
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.
3
Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes.

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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
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Glucose 6-phosphate dehydrogenase of human erythrocytes. I. Purification and characterization of normal (B+) enzyme.人红细胞葡萄糖-6-磷酸脱氢酶。I. 正常（B+）酶的纯化与特性分析
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Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.
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Human erythrocyte glucose 6-phosphate dehydrogenase: structure and function in normal and mutant subjects.人类红细胞葡萄糖-6-磷酸脱氢酶：正常人和突变体中的结构与功能
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