G6PD Baudelocque: A New Unstable Variant Characterized in
Cultured Fibroblasts

Junien, Claudine; Jc, Kaplan; Mc, Meienhofer; Maigret, P; A, Sender

doi:10.1159/000459413

Cited by 11 publications

(2 citation statements)

References 8 publications

(8 reference statements)

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Section: Discussionmentioning

confidence: 99%

“…Several authors, using routine enzymatic assay and electrophoresis, have been unable to detect mosaicism in heterozygotes (Junien et al 1974;Takahashi et al 1982;Lisker et al 1985). An alternative explanation (Junien et al 1974;Ravindranath and Beutler 1987) is that the absence of detectable cells carrying the defective enzyme may be the result of nonrandom selection occurring at an early stage of hemopoietic differentiation, with the consequent elimination of all progenitor cells expressing the mutant enzyme. A possible explanation is that the erythrocytes carrying the mutant enzyme are rapidly eliminated from the bloodstream (Beutler et al 1972).…”

Section: Discussionmentioning

confidence: 99%

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A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova)

et al. 1990

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A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova)

et al. 1990

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Two new glucose 6‐phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(‐) tokushima and gd(‐) tokyo

et al. 1976

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Two new variants of glucose 6-phosphate dehydrogenase (G6PD) deficiency associated with chronic nonspherocytic hemolytic anemia were discovered in Japan. Gd(-) Tokushima was found in a 17-years-old male whose erythrocytes contained 4.4% of normal enzyme activity. Partially purified enzyme revealed a main band of normal electrophoretic mobility with additional two minor bands of different mobility; normal Km G6P, and Km NADP five-to sixfold higher than normal; normal utilization of 2-deoxy-G6P, galactose-6P, and deamino-NADP; marked thermal instability; a normal pH curve; and normal Ki NADPH. The hemolytic anemia was moderate to severe. Gd(-) Tokyo was characterized from a 15-year-old male who had chronic nonspherocytic hemolytic anemia of mild degree. The erythrocytes contained 3% of normal enzyme activity, and partially purified enzyme revealed slow electrophoretic mobility (90% of normal for both a tris-hydrochloride buffer system and a tris-EDTA-borate buffer system, and 70% of normal for a phosphate buffer system); normal Km G6P and Km NADP; normal utilization of 2-deoxy-G6P, galactose-6P, and deamino-NADP; greatly increased thermal instability; a normal pH curve; and normal Ki NADPH. These two variants are clearly different from hitherto described G6PD variants, including the Japanese variants Gd(-) Heian and Gd(-) Kyoto. The mothers of both Gd(-) Tokushima and Gd(-) Tokoyo were found to be heterozygote by an ascorbate-cyanide test.

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Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria

et al. 1978

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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.

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G6PD Baudelocque: A New Unstable Variant Characterized in Cultured Fibroblasts

Cited by 11 publications

References 8 publications

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova)

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova)

Two new glucose 6‐phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(‐) tokushima and gd(‐) tokyo

Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria

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