title: Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES.
abstract: In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C-->A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( - - + + - - ), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and/or gene flow.
authors.affiliation: Instituto Nacional de Saúde, Laboratório de Química Clínica, Lisboa, Portugal.
authors.forename: Maria-Odete
authors.initials: MO
authors.lastname: Rodrigues
authors.forename: Júlia Dias
authors.initials: JD
authors.lastname: Pereira
authors.forename: Gisela
authors.initials: G
authors.lastname: Gaspar
authors.forename: Gabriel
authors.initials: G
authors.lastname: Olim
authors.forename: Maria-Do-Carmo
authors.initials: MD
authors.lastname: Martins
authors.forename: Carolino
authors.initials: C
authors.lastname: Monteiro
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D005091:Exons; D005828:Genetics, Population; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011174:Portugal
chemical_list: D005954:Glucosephosphate Dehydrogenase