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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