title: Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on the population of Naples.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic phenotype was determined in red cells from 979 male subjects born in Naples (Southern Italy). In 0.7% of the cases no activity could be detected in haemolysates, while in 1.3% of the cases G6PD activity was approximately 20% of normal and electrophoretic mobility was altered. Moreover in two subjects a G6PD with altered mobility and normal activity was shown. G6PD was characterized in 10 subjects with variant phenotype. We conclude that the G6PD(-) phenotype in the population of Naples consists of at least six different G6PD variants associated with mild deficiency and at least one, G6PD Mediterranean, associated with severe deficiency.
mesh_terms: D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D006801:Humans; D007558:Italy; D007700:Kinetics; D008297:Male; D010641:Phenotype
chemical_list: D005954:Glucosephosphate Dehydrogenase