Molecular Genetics of Glucose-6-Phosphate Dehydrogenase Deficiency in Mexico,,

ABSTRACT: Several studies carried out between 1965 and 1985 showed that G-6-PD deficiency in Mexico is heterogeneous at the biochemical level and that the G-6-PD A- phenotype is relatively common. We have now investigated the molecular basis of G-6-PD deficiency in Mexico. Up-to-date 60 chromosomes with G6PD mutations have been studied, 16 in previous studies and 44 in the present work. Molecular analysis of DNA from G-6-PD deficient Mexican mestizos and their relatives show that G-6-PD A- genotypes are relatively common but also that in Mexico G-6-PD deficiency is heterogeneous at the DNA level. Thus, five different genotypes have been observed: G-6-PD A-202A/376G(41 chromosomes), G-6-PD A-376G/968C(14 chromosomes), G-6-PD Seattle844C(3 chromosomes), G-6-PD “Mexico City”680A(1 chromosome) and G-6-PD Guadalajara1159T(1 chromosome). The G-6-PD A-202A/376G, G-6-PD A-376G/968Cand G-6-PD Seattle844Cmutations in Mexico are on the samePvu II/Pst I/1311/Nla IIIhaplotypes as found in individuals from Africa, Spain and the Canary Islands. Consequently, these mutations were probably imported to Mexico through African slaves and/or the Spanish immigrants during and after the colonization.