The detection of glucose-6-phosphate dehydrogenase deficiency in mediterraneans by comparative quantitative enzyme electrophoresis.
Glucose-6-phosphate dehydrogenase (G6PD) can be easily isolated from haemolysates by cellulose acetate electrophoresis, and heterozygous (as well as hemizygous and homozygous) G6PD deficiency can be readily detected if the activity of the enzyme is determined densitometrically after electrophoresis and expressed as a ratio of the activity of a second enzyme, 6-phosphogluconate dehydrogenase (6PGD), which is isolated at the same time and whose activity is similarly determined. A method is presented here, together with the results of a recent survey in which 400 babies of Greek origin were tested for G6PD deficiency by the method. An overall incidence of 4-3% was found in the group; 2-9% of the males were completely G6PD deficient and 5-2% of the females were heterozygous for the deficiency.
D001315:Australia; D004796:Clinical Enzyme Tests / Q000379:methods; D003720:Densitometry; D004588:Electrophoresis, Cellulose Acetate; D005006:Ethnicity; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis*; D006115:Greece / Q000208:ethnology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010734:Phosphogluconate Dehydrogenase / Q000097:blood
D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase