title: Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.
abstract: We present a rapid strategy based on Restriction Fragment Length Polymorphism (RFLP) analysis to characterize the more frequent glucose 6-phosphate dehydrogenase (G6PD) variants observed in a population with high gene flow. During a study involving more than 600 patients, we observed mainly G6PD A(-) (c.202G>A, c.376A>G; p.Val68Met, p.Asn126Asp), G6PD Mediterranean (Med) (c.563C>T, p.Ser188Phe), and G6PD Betica (c.376A>G, 542A>T; p.126Asn>Asp, 181Asp>Val) with addition of a few rare ones. A number of 10 abnormalities amounted to 92% of all the molecular defects. In addition, seven new mutations were found: three presented with acute hemolytic anemia following oxidative stress [G6PD Nice (c.1380G>C, p.Glu460Asp), G6PD Roubaix (c.811G>C, p.Val271Leu), and G6PD Toledo (c.496C>T, p.Arg166Cys)], three with different degrees of chronic hemolytic anemia [G6PD Lille (c.821A>T, p.Glu274Val), G6PD Villeurbanne (c.1000_1002delACC, p.Thr334del), and G6PD Amiens (c.1367A>T, p.Asp456Val)] and one found fortuitously G6PD Montpellier (c.1132G>A, p.Gly378Ser).
authors.affiliation: AP-HP, Hôpital H. Mondor-A. Chenevier, Service de Biochimie et Génétique, Créteil 94000, France. kamran.moradkhani@hmn.aphp.fr
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
authors.forename: Chadia
authors.initials: C
authors.lastname: Mekki
authors.forename: Michel
authors.initials: M
authors.lastname: Bahuau
authors.forename: Valerie Li Thiao
authors.initials: VL
authors.lastname: Te
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
authors.forename: Claude
authors.initials: C
authors.lastname: Préhu
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Frédéric
authors.initials: F
authors.lastname: Galactéros
mesh_terms: D005006:Ethnicity; D005091:Exons; D005602:France / Q000453:epidemiology; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D055503:Protein Multimerization; D020836:Protein Structure, Quaternary
chemical_list: D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase