title: Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants.
abstract: Screening for mutations at the G-6-PD gene by PCR-SSCP combined with restriction enzyme analysis and DNA sequencing was performed in nine G-6-PD deficient individuals with negative results for the presence of the most frequent G-6-PD mutations previously observed in Mexican population. The variants G-6-PD Valladolid(406T), G-6-PD Durham(713G), and G-6-PD Viangchan(871A) and four new G-6-PD mutant alleles were identified. The new mutations are located at cDNA nt 376 A --> T (126 Asn --> Tyr), nt 770 G --> T (257 Arg --> Leu), nt 1094 G --> A (365 Arg --> His), and nt 1285 A --> G (429 Lys --> Glu) and they were named G-6-PD San Luis Potosi, G-6-PD Zacatecas, G-6-PD Veracruz, and G-6-PD Yucatán, respectively. To date, a total of 18 different G-6-PD variants have been observed in Mexico and several of them are common in Africa, South Europe, and Southeast Asia.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico. gvacap@yahoo.com
authors.forename: Gerardo
authors.initials: G
authors.lastname: Vaca
authors.forename: Eliakym
authors.initials: E
authors.lastname: Arámbula
authors.forename: Alejandro
authors.initials: A
authors.lastname: Monsalvo
authors.forename: Claudina
authors.initials: C
authors.lastname: Medina
authors.forename: Cristina
authors.initials: C
authors.lastname: Nuñez
authors.forename: Lucila
authors.initials: L
authors.lastname: Sandoval
authors.forename: Beatriz
authors.initials: B
authors.lastname: López-Guido
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008800:Mexico; D017354:Point Mutation
chemical_list: D005954:Glucosephosphate Dehydrogenase