ABSTRACT
DNA sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679C-->T (G6PD Radlowo, class 2) and a 1006A-->G (G6PD Torun, class 1). Variant G6PD Radlowo was characterized biochemically. Both novel mutations were analyzed using a model of the tertiary structure of the human enzyme. The main chain of G6PD Torun is different from the wild-type G6PD. The remaining mutations identified by us in deficient Polish patients were: 542A-->T (G6PD Malaga), 1160G-->A (G6PD Beverly Hills), 1178G-->A (G6PD Nashville), 1192G-->A (G6PD Puerto Limon), and 1246G-->A (G6PD Tokyo). Variant Tokyo was found in four families. In one of them favism was the first clinical sign of G6PD deficiency and chronic nonspherocytic hemolytic anemia (CNSHA) was diagnosed later. Variants G6PD Nashville and G6PD Puerto Limon were accompanied by the silent mutation 1311C-->T of the G6PD gene.
Subject(s)
Anemia, Hemolytic, Congenital Nonspherocytic/enzymology , Anemia, Hemolytic, Congenital Nonspherocytic/genetics , Favism/enzymology , Favism/genetics , Glucosephosphate Dehydrogenase Deficiency/enzymology , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Point Mutation , Acute Disease , Adolescent , Adult , Base Sequence , Child , Child, Preschool , Chronic Disease , DNA Primers/genetics , Female , Genetic Variation , Glucosephosphate Dehydrogenase/chemistry , Humans , Male , Middle Aged , Models, Molecular , Pedigree , Phenotype , Poland , Protein ConformationABSTRACT
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.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/genetics , Mutation , DNA/analysis , Erythrocytes/enzymology , Favism , Female , Glucosephosphate Dehydrogenase Deficiency/ethnology , Humans , Male , Poland/epidemiology , Polymerase Chain ReactionABSTRACT
The ATP level and pyruvate kinase (PK) activity were measured in red cells of 21 dogs. The obtained results are: ATP -- 732 +/- 197.3 mumoles/1 RBC, PK -- 919 +/- 452.3 mumoles/min/1 RBC. The ATP level in dog red cells was significantly lower than in rabbit and rat red cells (p less than 0.05). Possible explanation for the low ATP level in dog red cells is discussed.
