title: Two new Gaucher disease mutations.
abstract: Recently, a mutation at nucleotide 1193 of the glucocerebrosidase gene was described in a patient with type 1 Gaucher disease. This mutation destroys a TaqI site in a polymerase chain reaction (PCR)-amplified fragment. We used digestion with this enzyme to screen DNA samples from Gaucher disease patients representing 23 previously unidentified alleles and discovered that this site had been destroyed in three samples. However, the mutation that caused this change proved to be a CT substitution at cDNA nucleotide 1192 (Genomic 5408; 359Arg-->End). Fortuitously, another TaqI site was destroyed by a different mutation, a GA mutation at nt 1312 (Genomic 5927; 399AspAsn). Both of these mutations were functionally severe in that they were associated with type 2 (acute neuronopathic) Gaucher disease.
authors.affiliation: Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000235:genetics*; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D009154:Mutation
chemical_list: D005962:Glucosylceramidase