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法国西南部人群中葡萄糖-6-磷酸脱氢酶(G6PD)类型的分布:常见变体和新变体。

Distribution of G6PD types in the population of southwest France: common variants and new variants.

作者信息

Gherardi M, Bierme R, Corberand J, Pris J, Vergnes H

出版信息

Hum Hered. 1976;26(4):279-89. doi: 10.1159/000152815.

Abstract

Glucose-6-phosphate dehydrogenase was purified from blood samples originating from 33 subjects living in the 'Midi-Pyrenees' region (Southwest France). Biochemical and electrophoretic characteristics of several enzymatic variants were revealed. The distribution of the mutations in the subjects studied gave the following results: (1) Meditteranean Gd(-) and Gd(-)A identified variants; they constitute the main part of our observations. (2) Two original variants confirmed by the WHO International Reference Laboratory, that is: Gd(-) Toulouse and Gd(+) Luz-Saint-Sauveur; the latter mutation did not produce any haematological disorder. Absence of chronic haemolytic anaemia as well as a high rate of favism could be found in the families studied. As it is generally observed in Mediterranean regions, Southwest France population is characterized by a certain heterogeneity in biochemical and genetic mutations.

摘要

从居住在法国西南部“南比利牛斯”地区的33名受试者的血样中纯化出葡萄糖-6-磷酸脱氢酶。揭示了几种酶变体的生化和电泳特征。所研究受试者中突变的分布给出了以下结果:(1)鉴定出地中海型Gd(-)和Gd(-)A变体;它们构成了我们观察结果的主要部分。(2)经世界卫生组织国际参考实验室确认的两种原始变体,即:Gd(-)图卢兹和Gd(+)吕克-圣索沃尔;后一种突变未产生任何血液学疾病。在所研究的家族中可发现无慢性溶血性贫血以及蚕豆病发生率高。正如在地中海地区普遍观察到的那样,法国西南部人群在生化和基因突变方面具有一定的异质性。

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