Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene

Eur J Hum Genet. 1997 Jan-Feb;5(1):22-4.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • Erythrocytes / enzymology
  • Favism
  • Female
  • Glucosephosphate Dehydrogenase Deficiency / ethnology
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Male
  • Mutation*
  • Poland / epidemiology
  • Polymerase Chain Reaction

Substances

  • DNA