title: Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.
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.
authors.affiliation: Department of Laboratory Diagnostics, Medical Center of Postgraduate Education, Warsaw, Poland. atka@ibb.waw.pl
authors.forename: E
authors.initials: E
authors.lastname: Jablonska-Skwiecinska
authors.forename: I
authors.initials: I
authors.lastname: Lewandowska
authors.forename: D
authors.initials: D
authors.lastname: Plochocka
authors.forename: J
authors.initials: J
authors.lastname: Topczewski
authors.forename: J G
authors.initials: JG
authors.lastname: Zimowski
authors.forename: J
authors.initials: J
authors.lastname: Klopocka
authors.forename: B
authors.initials: B
authors.lastname: Burzynska
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D017931:DNA Primers / Q000235:genetics; D005236:Favism / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011044:Poland; D011487:Protein Conformation
chemical_list: D017931:DNA Primers; D005954:Glucosephosphate Dehydrogenase