title: Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East.
abstract: A common glucose-6-phosphate dehydrogenase (G6PD) variant characterized by severe enzyme deficiency and B-like electrophoretic mobility is called "G6PD-Mediterranean" because it is found in different populations around the Mediterranean Sea. Sequence analysis of Italian subjects has revealed that the molecular basis of G6PD-Mediterranean is a single C-T transition at nucleotide position 563, causing a serine phenylalanine replacement at amino acid position 188. Most G6PD-Mediterranean subjects also have a silent C-T transition (without amino acid replacement) at nucleotide position 1311. Twenty-one unrelated individuals from Saudi Arabia, Iraq, Iran, Jordan, Lebanon, and Israel with both severe G6PD deficiency and B-like electrophoretic mobility were tested for both mutations by using amplification followed by digestion with appropriate restriction enzymes. All but one had the 563 mutation, and, of these, all but one had the 1311 mutation. Another 24 unrelated Middle Eastern individuals with normal G6PD activity or not known to be G6PD deficient were similarly tested. Four had the silent mutation at position 1311 in the absence of the deficiency mutation at position 563. We conclude that (1) the large majority of Middle Eastern subjects with the G6PD-Mediterranean phenotype have the same mutation found in Italy, (2) the silent mutation is an independent polymorphism in the Middle East, with a frequency of about .13, and (3) the mutation leading to the G6PD-Mediterranean deficiency has probably arisen on a chromosome that already carried the silent mutation.
authors.affiliation: Department of Haematology, Royal Post-graduate Medical School, London, England.
authors.forename: B
authors.initials: B
authors.lastname: Kurdi-Haidar
authors.forename: P J
authors.initials: PJ
authors.lastname: Mason
authors.forename: A
authors.initials: A
authors.lastname: Berrebi
authors.forename: G
authors.initials: G
authors.lastname: Ankra-Badu
authors.forename: A
authors.initials: A
authors.lastname: al-Ali
authors.forename: A
authors.initials: A
authors.lastname: Oppenheim
authors.forename: L
authors.initials: L
authors.lastname: Luzzatto
mesh_terms: D001483:Base Sequence; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D008522:Mediterranean Sea; D008877:Middle East; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D005954:Glucosephosphate Dehydrogenase