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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Beutler E,Gelbart Tdoi
10.1007/BF00210614subject
Has Abstractpub_date
1994-02-01 00:00:00pages
209-10issue
2eissn
0340-6717issn
1432-1203journal_volume
93pub_type
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