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Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria. Study in Northern Algeria with description of five new variants.

作者信息

Benabadji M, Merad F, Benmoussa M, Trabuchet G, Junien C, Dreyfus J C, Kaplan J C

出版信息

Hum Genet. 1978 Jan 19;40(2):177-84. doi: 10.1007/BF00272298.

DOI:10.1007/BF00272298
PMID:624546
Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 3.2% of the male population living in the urban area of Algiers. The deficient subjects originated from multiple geographic regions of Northern Algeria, with prevalence of individuals of Berber-Kabyle origin. Red blood cell G6PD was partially purified and characterized in deficient males from 17 families, and six different variants were found. Among them, only one, the Gd(-) Kabyle variant, had been previously described. It was detected in nine families. The other five variants were new: Gd(-) Laghouat (four cases), Gd(-) Blida (one case), Gd(-) Thenia (one case), Gd(-) Titteri (one case), and Gd(-) Alger (two brothers). Strikingly, the common Mediterranean variant was not found. G6PD deficiency is heterogeneous in northern Algeria where autochtonous variants seem to prevail. The Kabyle variant may be common in this country.

摘要

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2
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At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria.

本文引用的文献

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Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency in Sardinia.撒丁岛葡萄糖-6-磷酸脱氢酶缺乏症的遗传异质性。
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G6PD Baudelocque: a new unstable variant characterized in cultured fibroblasts.葡萄糖-6-磷酸脱氢酶波德洛克变异型:一种在培养的成纤维细胞中鉴定出的新型不稳定变异体。
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