Molecular heterogeneity of the glucose-6-phosphate dehydrogenase deficiency in the Hellenic population

We report results from a systematic study to identify the molecular basis o f glucose-6-phosphate dehydrogenase (G6PD) deficiency on a sample of 299 ma le subjects from the Hellenic population. Our stepwise approach involved pa rtial biochemical characterization and quantitation of the enzyme's activit y, MbolI restriction endonuclease digestion to identify the G6PD Mediterran ean variant, which represents the most frequent G6PD variant in our populat ion and a nonradioactive polymerase chain reaction-single-strand conformati on polymorphism methodology for the detection of the underlying molecular d efect(s) in the rest of the non-Mediterranean G6PD-deficient individuals. T hrough this approach, six different G6PD variants were identified (G6PD Med iterranean, G6PD Hermoupolis, G6PD Cassano, G6PD Seattle, G6PD lerapetra an d G6PD Acrokorinthos), two of which were new (G6PD Hermoupolis, G6PD Acroko rinthos). In essence, this study underlines the remarkable genetic heteroge neity of the G6PD deficiency in the Hellenic population, while the finding of the double mutant, G6PD Hermoupolis, may help to outline the relationshi p and evolution of mutations in the human G6PD locus. Copyright (C) 2000 S. Karger AG, Basel.