✦ LIBER ✦

Two new Gaucher disease mutations

✍ Scribed by E. Beutler; T. Gelbart

Book ID: 104666153
Publisher: Springer
Year: 1994
Tongue: English
Weight: 169 KB
Volume: 93
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00210614

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✦ Synopsis

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.

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