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

Abstract

The electrophoretic mobility and level of enzyme activity of glucose-6-phosphate dehydrogenase (G6PD) was established in 100 unrelated Algerian males with G6PD deficiency. DNA from these subjects was analysed for the presence of certain known G6PD mutations by the appropriate restriction enzyme digestion of fragments amplified by the polymerase chain reaction. Where the mutation could not be identified in this way, the samples were subjected to single-strand conformation polymorphism analysis and abnormal fragments were sequenced. In this way, eight different mutations have been identified, of which five are polymorphic and account for 92% of the samples. The most common variants are G6PD A- (46%) and G6PD Mediterranean (23%), both of which were associated with favism. A new polymorphic variant, G6PD Aures, has been identified during the course of this study, whereas another, G6PD Santamaria, has now been established as a polymorphic variant (11%). Thus, G6PD deficiency in Algeria is heterogeneous, suggesting that there has been significant gene flow, both from sub-Saharan Africa and from other parts of the Mediterranean.

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

“…Recently, by the use of molecular analysis, the G6PD Seattle mutation was found in Spain (28), in the Canary Islands (29,30) and in the north African Berber (30). Nafa et al (13) found the Seattle mutation associated with haplotype (Ϫ Ϫ ϩ ϩ Ϫ Ϫ) in Algeria and, and Medina et al found in England an association to the same haplotype although restricted to four RFLPs (PvuII, PstI, BclI, and NlaIII) (31). Our study in the Portuguese population shows that the haplotype associated G6PD Seattle mutation is the same as that described by Nafa et al (13) and by Medina et al (31).…”

“…Nafa et al (13) found the Seattle mutation associated with haplotype (Ϫ Ϫ ϩ ϩ Ϫ Ϫ) in Algeria and, and Medina et al found in England an association to the same haplotype although restricted to four RFLPs (PvuII, PstI, BclI, and NlaIII) (31). Our study in the Portuguese population shows that the haplotype associated G6PD Seattle mutation is the same as that described by Nafa et al (13) and by Medina et al (31). In 1496 adult Jews were expelled from Portugal.…”

“…We were able to expand, with the introduction of the NlaIII allele, the haplotype profile described by Vulliamy et al (12), and Nafa et al (13), now designated by haplotype Ia, IVa, VIa and VIIa with the information of the intron 11 NlaIII restriction enzyme site-NlaIII (ϩ)-and the absence of the restriction site, haplotypes I, IV, VI and VII-NlaIII (Ϫ). Table 8 shows that the polymorphisms FokI (ϩ) and PvuII (ϩ) that are not present in the control population are present in the affected population with frequencies of 75.7 and 48.6%, respectively.…”

“…Nafa et al (13), did not find in the population from Algeria the NlaIII (ϩ) allele polymorphism associated with the African G6PD AϪ mutation, haplotypes IV and VI. Xu et al in the population of the Canary Island (29) and Medina et al in Mexico (31), detected the NlaIII (ϩ) associated with the FokI (ϩ), haplotype VIa.…”

“…Among these, the Betica mutation was described in Spain (15,16) and the Santa Maria mutation in Costa Rica (17,18) and in Algeria (13). In Portugal the Betica mutation was found in Setúbal and Lisbon and Santa Maria mutation in Lisbon, Setúbal and Faro, and absent in the northern part of the country.…”