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.
References
Beutler E (1992) Gaucher disease: new molecular approaches to diagnosis and treatment. Science 256:794–799
Beutler E (1993) Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci USA 90:5384–5390
Beutler E, Gelbart T (1993) Gaucher disease mutations in nonJewish patients. Br J Haematol 85:401–405
Beutler E, Gelbart T, Kuhl W, Zimran A, West C (1992) Mutations in Jewish patients with Gaucher disease. Blood 79:1662–1666
Casanova J-L, Pannetier C, Jaulin C, Kourilsky P (1990) Optimal conditions for directly sequencing double-strand PCR products with Sequenase. Nucleic Acids Res 18:4028
Kawame H, Hasegawa Y, Eto Y, Maekawa K (1992) Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Hum Genet 90:294–296
Zimran A, Gelbart T, Beutler E (1990) Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. Am J Hum Genet 46:902–905
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Beutler, E., Gelbart, T. Two new Gaucher disease mutations. Hum Genet 93, 209–210 (1994). https://doi.org/10.1007/BF00210614
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00210614