title: Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene.
abstract: Studies on the mutation 563T and silent mutation 1311T of the glucose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified-according to WHO-as group 2 G6PD deficiency. Both mutations were found in 19 families, including 17 of Polish origin. Mutation 563T alone was found in 1 Greek female. The frequency of the silent mutation 1311T in Polish unaffected controls was 0.10. It is postulated that at least parts of the Polish (or Middle-Eastern European) and Mediterranean populations are of a common origin.
authors.affiliation: Department of Laboratory Diagnostics, Medical Center of Postgraduate Education, Warsaw, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Jabłońska-Skwiecińska
authors.forename: J G
authors.initials: JG
authors.lastname: Zimowski
authors.forename: J
authors.initials: J
authors.lastname: Kłopocka
authors.forename: M
authors.initials: M
authors.lastname: Bisko
authors.forename: D
authors.initials: D
authors.lastname: Hoffman-Zacharska
authors.forename: J
authors.initials: J
authors.lastname: Zaremba
mesh_terms: D004247:DNA / Q000032:analysis; D004912:Erythrocytes / Q000201:enzymology; D005236:Favism; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011044:Poland / Q000453:epidemiology; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA