title: Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation.
abstract: Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzyme pathology in humans; it is X-linked inherited and causes neonatal hyperbilirubinaemia, chronic nonspherocytic haemolytic anaemia and drug-induced acute haemolytic anaemia. G6PD deficiency has scarcely been studied in the northern region of Mexico, which is important because of the genetic heterogeneity described in Mexican population. Therefore, samples from the northern Mexico were biochemically screened for G6PD deficiency, and PCR-RFLPs, and DNA sequencing used to identify mutations in positive samples. The frequency of G6PD deficiency in the population was 0.95% (n = 1993); the mutations in 86% of these samples were G6PD A(-202A/376G), G6PDA(-376G/968C) and G6PD Santamaria(376G/542T). Contrary to previous reports, we demonstrated that G6PD deficiency distribution is relatively homogenous throughout the country (P = 0.48336), and the unique exception with high frequency of G6PD deficiency does not involve a coastal population (Chihuahua: 2.4%). Analysis of eight polymorphic sites showed only 10 haplotypes. In one individual we identified a new G6PD mutation named Mexico DF(193A>G) (rs199474830), which probably results in a damaging functional effect, according to PolyPhen analysis. Proteomic impact of the mutation is also described.
authors.affiliation: Doctorado Regional en Biotecnología, Facultad de Ciencias Quimico Biologicas, Universidad Autonoma de Sinaloa, Av. de las Americas y Universitarios s/n Ciudad Universitaria, 80010 Culiacan, Mexico. eliakymarambula@hotmail.com.
authors.forename: N
authors.initials: N
authors.lastname: García-Magallanes
authors.forename: F
authors.initials: F
authors.lastname: Luque-Ortega
authors.forename: E M
authors.initials: EM
authors.lastname: Aguilar-Medina
authors.forename: R
authors.initials: R
authors.lastname: Ramos-Payán
authors.forename: C
authors.initials: C
authors.lastname: Galaviz-Hernández
authors.forename: J G
authors.initials: JG
authors.lastname: Romero-Quintana
authors.forename: L
authors.initials: L
authors.lastname: Del Pozo-Yauner
authors.forename: H
authors.initials: H
authors.lastname: Rangel-Villalobos
authors.forename: E
authors.initials: E
authors.lastname: Arámbula-Meraz
mesh_terms: D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008800:Mexico / Q000453:epidemiology; D008958:Models, Molecular; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length; D017434:Protein Structure, Tertiary
chemical_list: D005954:Glucosephosphate Dehydrogenase