ERYTHROCYTE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN POLAND - A STUDY ON THE 563-MUTATION AND 1311-MUTATION OF THE G6PD GENE

Studies on the mutation 563(T) and silent mutation 1311(T) of the gluc ose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified - according to WH O - as group 2 G6PD deficiency. Both mutations were found in 19 famili es, including 17 of Polish origin. Mutation 563(T) alone was found in 1 Greek female. The frequency of the silent mutation 1311(T) 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.