title: Glucose-6-phosphate dehydrogenase variants in Hawaii.
abstract: Sequence analysis has been performed on the DNA of 13 glucose-6-phosphate dehydrogenase (G6PD) deficient males from Hawaii, 6 of Filipino, 6 of Laotian, and 1 of Chinese extraction. Four different mutations were found: A-->T at cDNA nt 835, G-->A at nt 871, C-->T at nt 1360, and G-->A at nt 1388. The mutations at nt 835 and nt 1360 have not been described previously, and the latter, in particular, appears to be relatively common. The nt 1360 mutation changes the same codon as is altered in a previously described mutation, G6PD Andalus.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: W
authors.initials: W
authors.lastname: Kuhl
authors.forename: Y E
authors.initials: YE
authors.lastname: Hsia
mesh_terms: D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics; D006254:Hawaii; D006801:Humans; D007812:Laos / Q000208:ethnology; D008297:Male; D009154:Mutation; D010679:Philippines / Q000208:ethnology
chemical_list: D005954:Glucosephosphate Dehydrogenase