Mutation screening of the glucocerebrosidase gene by SSCP analysis revealed an abnormal pattern of exon 10 in two unrelated Italian Gaucher patients. Direct sequencing of the mutated samples identified a G6490→A transition. The same mutation has been described before in a Japanese patient with Gaucher disease type III. The clinical phenotype of our patients was type I in one whose second allele carried the N370S mutation and type II in the other one with a L444P mutation. In this latter the G6490→A substitution cancels a normal Msp I site, while on the opposite chromosome the T6433→C mutation (L444P) introduces a new Msp I site. Thus, digestion with Msp I of the amplified exon 10 is a useful method for identifying the two mutations simultaneously.
|Number of pages||5|
|Publication status||Published - 1995|
- Gaucher disease
- Genotype/phenotype correlation
- Glucocerebrosidase gene
- SSCP analysis
ASJC Scopus subject areas