title: Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups.
abstract: Mutations that produce glucose-6-phosphate dehydrogenase (G6PD) deficiency have been identified in samples from patients with hemolytic disease in the United States, and in G6PD-deficient samples from Greece, the Canary Islands, the Czech and Slovak Republics, South China, and in samples from the Coriell Cell Repository. Eight new mutations are described. Particularly unusual were a nonsense mutation ("G6PD Georgia"1284A), a deletion of six bases ("G6PD Stony Brook" 724-729 del) coding for two amino acids, and a deletion of the invariant dinucleotide ApG at the 3' acceptor splice site in the highly conserved sequence between intron 10 and exon 11 ("G6PD Varnsdorf"). In addition, five new missense point mutations were identified: "G6PD Cleveland"820A creates a deduced AA 274 Glu-->Lys; "G6PD West Virginia"910T AA 303 Val-->Phe; "G6PD Fushan"1004A, AA 335 Ala-->Asp; "G6PD Olomouc"1141C AA 381 Leu-->Phe; and "G6PD Praha"1166G AA 389 Glu-->Gly. All of the new mutations except for "G6PD Fushan"1004A were found in patients with hereditary nonspherocytic hemolytic anemia. A coincidental finding in the case of G6PD "West Virginia" was a C-->T transition at nucleotide 1,191. This silent mutation, Asn-->Asn, appears to be rare. Haplotype analysis of mutations in samples from the Canary Islands and South China agreed with previous findings.
authors: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037.
authors: W
authors: W
authors: Xu
authors: B
authors: B
authors: Westwood
authors: C S
authors: CS
authors: Bartsocas
authors: J J
authors: JJ
authors: Malcorra-Azpiazu
authors: K
authors: K
authors: Indrák
authors: E
authors: E
authors: Beutler
mesh_terms: D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics; D001266:Atlantic Islands; D001483:Base Sequence; D002681:China; D018153:Czech Republic; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics; D006115:Greece; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D018154:Slovakia; D014481:United States
chemical_list: D005954:Glucosephosphate Dehydrogenase