title: 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/968C) and G-6-PD Seattle844C mutations in Mexico are on the same Pvu II/ Pst I/ 1311 / Nla III haplotypes 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.
authors.affiliation: Division de Genetica, Centro de Investigacion Biomedica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
authors.forename: M D
authors.initials: MD
authors.lastname: Medina
authors.forename: G
authors.initials: G
authors.lastname: Vaca
authors.forename: B
authors.initials: B
authors.lastname: Lopez-Guido
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000328:Adult; D005260:Female; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006238:Haploidy; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D008297:Male; D008800:Mexico / Q000453:epidemiology; D009154:Mutation; D044465:White People / Q000235:genetics
chemical_list: D005954:Glucosephosphate Dehydrogenase