title: Genetic polymorphism of G6PD in a Bulgarian population.
abstract: Considerable genetic heterogeneity in G6PD was found in the Bulgarian population-14 G6PD variants isolated from 117 hemizygous carriers of G6PD deficiency. Of these, G6PD Mediterranean type was a polymorphic variant and G6PD Corinth occurred with high frequency. Two new variants were identified-G6PD Rudosem and G6PD Nedelino. In a selected group of 78 subjects with clinical manifestations, four variants were established: G6PD Mediterranian, G6PD Corinth, G6PD Seattle and G6PD Ohut II.
mesh_terms: D000743:Anemia, Hemolytic / Q000201:enzymology; D002031:Bulgaria; D005236:Favism / Q000201:enzymology; D005787:Gene Frequency; D005796:Genes; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000201:enzymology; D007700:Kinetics; D011110:Polymorphism, Genetic
chemical_list: D005954:Glucosephosphate Dehydrogenase