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Distribution of G6PD Types in the Population of Southwest France: Common Variants and New Variants

 

作者: M. Gherardi,   R. Bierme,   J. Corberand,   J. Pris,   H. Vergnes,  

 

期刊: Human Heredity  (Karger Available online 1976)
卷期: Volume 26, issue 4  

页码: 279-289

 

ISSN:0001-5652

 

年代: 1976

 

DOI:10.1159/000152815

 

出版商: S. Karger AG

 

关键词: G6PD variants;Mediterranean populations;Southern France;Favism

 

数据来源: Karger

 

摘要:

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) Mediterranean 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

 

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