AT LEAST 5 POLYMORPHIC MUTANTS ACCOUNT FOR THE PREVALENCE OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN ALGERIA

The electrophoretic mobility and level of enzyme activity of glucose-6 -phosphate dehydrogenase (G6PD) was established in 100 unrelated Alger ian males with G6PD deficiency. DNA from these subjects was analysed f or the presence of certain known G6PD mutations by the appropriate res triction enzyme digestion of fragments amplified by the polymerase cha in reaction. Where the mutation could not be identified in this way, t he samples were subjected to single-strand conformation polymorphism a nalysis and abnormal fragments were sequenced. In this way, eight diff erent mutations have been identified, of which five are polymorphic an d account for 92% of the samples. The most common variants are G6PD A- (46%) and G6PD Mediterranean (23%), both of which were associated wit h favism. A new polymorphic variant, G6PD Aures, has been identified d uring the course of this study, whereas another, G6PD Santamaria, has now been established as a polymorphic variant (11%). Thus, G6PD defici ency in Algeria is heterogeneous, suggesting that there has been signi ficant gene flow, both from sub-Saharan Africa and from other parts of the Mediterranean.