title: Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
abstract: Three major forms (types I-III) of Gaucher disease (GD) have been identified. The largest group of patients with type III GD has been reported from the province of Norrbotten in Sweden. In the present study the genomes from two GD patients of Norrbottnian origin were examined for abnormalities in the glucocerebrosidase gene. In both individuals, a single nucleotide substitution was found in exon 10. This mutation, which results in the substitution of proline for leucine, is identical to the NciI mutation described by Tsuji and co-workers in GD patients of other ethnic origins. Nine additional patients with Norrbottnian GD were shown to be homozygous for the same mutation by restriction-enzyme digestion of DNA amplified by PCR.
authors.affiliation: Department of Medical Genetics, University of Uppsala, Sweden.
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: M
authors.initials: M
authors.lastname: Lagerström
authors.forename: A
authors.initials: A
authors.lastname: Erikson
authors.forename: U
authors.initials: U
authors.lastname: Pettersson
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D015246:Deoxyribonuclease EcoRI; D005091:Exons; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005959:Glucosidases / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D015342:DNA Probes; D004247:DNA; D015246:Deoxyribonuclease EcoRI; D005959:Glucosidases; D005962:Glucosylceramidase