Molecular identification of glucose-6-phosphate dehydrogenase (G6PD) variants from the Maltese population

Abstract

Glucose-6-hosphate dehydrogenase (G6PD) is a cytoplasmic which catalyses the first step in the hexose monophosphate pathway, and produces NADPH required for reactions of various biochemical pathways, as well as for the stability of catalase and the preservation and regeneration of reduced glutathione (GSH). G6PD variants having normal or low enzyme activity were identified by isoelectric focusing using a cytochemical stain. The white blood cells were isolated from these samples and the DNA extracted. A set of primers to amplify each exon were synthesised, together with a sequencing primer for each exon. All the Maltese variants were checked for the presence of the common G6PD variants in the Mediterranean.