title: Molecular heterogeneity underlying the G6PD Mediterranean phenotype.
abstract: As part of a study aiming to define the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we analysed a sample from a Portugese boy with a family history of favism. Although the biochemical properties of red-cell G6PD from this subject were similar to those of the common variant G6PD Mediterranean, the corresponding mutation (563 C----T) was not present. Instead, polymerase chain reaction (PCR) amplification and sequencing of the entire gene detected a C----T transition at nucleotide 592 in exon VI, changing an arginine residue to a cysteine residue only 10 amino acids downstream from the Mediterranean mutation. Single-strand conformation polymorphism analysis of a PCR-amplified DNA fragment spanning exons VI and VII of the G6PD gene has detected the same mutation, confirmed by sequencing, in a G6PD-deficient patient from Southern Italy. We name this new variant G6PD Coimbra.
authors.affiliation: Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
authors.forename: C M
authors.initials: CM
authors.lastname: Corcoran
authors.forename: V
authors.initials: V
authors.lastname: Calabrò
authors.forename: G
authors.initials: G
authors.lastname: Tamagnini
authors.forename: M
authors.initials: M
authors.lastname: Town
authors.forename: B
authors.initials: B
authors.lastname: Haidar
authors.forename: T J
authors.initials: TJ
authors.lastname: Vulliamy
authors.forename: P J
authors.initials: PJ
authors.lastname: Mason
authors.forename: L
authors.initials: L
authors.lastname: Luzzatto
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005236:Favism / Q000201:enzymology / Q000235:genetics; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005954:Glucosephosphate Dehydrogenase