[人类红细胞葡萄糖-6-磷酸脱氢酶新突变形式的描述]

[Description of new mutant forms of erythrocyte glucose-6-phosphate dehydrogenase in man].

作者信息

Shatskaia T L, Krasnopol'skaia K D, Annenkov G A

出版信息

Genetika. 1975;11(12):116-22.

PMID:5339

Abstract

9 variants of human erythrocyte glucose-6-phosphate dehydrogenase (G6PD) were isolated from erythrocytes of patients with G6PD deficiency and partially purified according to WHO program for stanartization of methods for studying G6PD. The results of physico-chemical study of these enzymes (determination of electrophoretic mobility, kappaM for G6P and NADP, pH optimum and thermostability) permit tu consider 5 of them to be new mutations of G6PD previously not described in literature. The observed high geterogeneity of variants of G6PD in Azerbaijan is discussed.

摘要

从葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者的红细胞中分离出9种人类红细胞G6PD变体，并根据世界卫生组织关于G6PD研究方法标准化的方案进行了部分纯化。对这些酶的物理化学研究结果（电泳迁移率的测定、G6P和NADP的κM、最适pH值和热稳定性）使我们可以认为其中5种是文献中先前未描述的G6PD新突变。文中讨论了在阿塞拜疆观察到的G6PD变体的高度异质性。

相似文献

1

[Description of new mutant forms of erythrocyte glucose-6-phosphate dehydrogenase in man].[人类红细胞葡萄糖-6-磷酸脱氢酶新突变形式的描述]

Genetika. 1975;11(12):116-22.

2

[Characteristics of two new mutant forms of erythrocyte glucose-6-phosphate dehydrogenase: "Kirovograd" G6PD and "Zhitomir" G6PD].[红细胞葡萄糖-6-磷酸脱氢酶两种新突变形式的特征：“基洛夫格勒”G6PD和“日托米尔”G6PD]

Genetika. 1976;12(6):150-4.

3

[Electrophoretic and kinetic properties of the erythrocyte glucose-6-phosphate dehydrogenase of patients with hemolytic anemia related to a deficit in the activity of that enzyme].[与葡萄糖-6-磷酸脱氢酶活性缺乏相关的溶血性贫血患者红细胞葡萄糖-6-磷酸脱氢酶的电泳及动力学特性]

Vopr Med Khim. 1977 Mar-Apr;23(2):166-71.

4

[Detection of a new anomalous variant of glucose-6-phosphate dehydrogenase in human erythrocytes].[人红细胞中葡萄糖-6-磷酸脱氢酶一种新的异常变体的检测]

Biull Eksp Biol Med. 1977 Dec;84(12):728-31.

5

Characterization of erythrocytic glucose-6-phosphate dehydrogenase in a mouse strain with reduced G6PD activity.葡萄糖-6-磷酸脱氢酶活性降低的小鼠品系中红细胞葡萄糖-6-磷酸脱氢酶的特性分析

Biomed Biochim Acta. 1991;50(3):233-8.

6

New stable mutant (Gd(-) variants: G6PD Tashkent and G6PD Nucus. Molecular basis of hereditary enzyme deficiency.新的稳定突变体（Gd(-)变体：G6PD塔什干型和G6PD努库斯型。遗传性酶缺乏的分子基础。

Acta Biol Med Ger. 1981;40(4-5):559-62.

7

[Genetic heterogeneity of G6PD deficiency: mutant alleles of G6PD in the Shekii district of Azerbaijan].[葡萄糖-6-磷酸脱氢酶缺乏症的遗传异质性：阿塞拜疆谢基伊地区葡萄糖-6-磷酸脱氢酶的突变等位基因]

Genetika. 1977;13(8):1455-61.

8

G6PD kuanyama: a new variant of human erythrocyte glucose-6-phosphate dehydrogenase showing slower than normal electrophoretic mobility.G6PD宽山型：一种人类红细胞葡萄糖-6-磷酸脱氢酶的新变体，其电泳迁移率比正常情况慢。

S Afr J Med Sci. 1974;39(1):5-13.

9

Heterogeneity of glucose-6-phosphate dehydrogenase enzymopathies in the GDR.德意志民主共和国葡萄糖-6-磷酸脱氢酶酶病的异质性

Biomed Biochim Acta. 1987;46(2-3):S177-81.

10

[Gd- allele distribution patterns in Azerbaijan. III. The identification of mutant forms of glucose-6-phosphate dehydrogenase].[阿塞拜疆的Gd等位基因分布模式。III. 葡萄糖-6-磷酸脱氢酶突变形式的鉴定]

Genetika. 1980;16(12):2217-25.

引用本文的文献

1

Distribution of Gd- alleles in some ethnic groups of the USSR.苏联部分民族中Gd-等位基因的分布情况。

Hum Genet. 1987 Mar;75(3):258-63. doi: 10.1007/BF00281070.

2

Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD Kirovograd and G6PD Zhitomir.阿什肯纳兹人中红细胞葡萄糖6-磷酸脱氢酶的突变形式。两种新变体的描述：G6PD基洛夫格勒和G6PD日托米尔。

Hum Genet. 1976 Jul 27;33(2):175-8. doi: 10.1007/BF00281892.

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