Rapid Detection of the Sacsin Mutations Causing Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
| Autor: | Andrea Richter, Jocelyne Mercier, Jean-Pierre Bouchard, Jean Mathieu, Claude Prévost, James C. Engert |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Genetics
Mutation DNA Mutational Analysis education Nonsense mutation Quebec DNA Biology medicine.disease_cause Polymerase Chain Reaction Rapid detection Molecular biology Exon medicine Humans Spastic ataxia Allele Oligonucleotide Probes Gene Alleles Heat-Shock Proteins Genetics (clinical) Spinocerebellar Degenerations |
| Zdroj: | Genetic Testing. 5:255-259 |
| ISSN: | 1557-7473 1090-6576 |
| DOI: | 10.1089/10906570152742326 |
| Popis: | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS; MIM SACS 270550) is frequent in northeastern Québec. Two causal mutations have been identified in the 11.7-kb single exon sacsin gene by sequence-based analyses. Mutation g.6594delT (DeltaT) was reported in 96% of the patients whereas a g.5254C --T nonsense mutation has been observed only in 2 families. Here we report a reliable and inexpensive method to detect more than 95% of the ARSACS disease alleles from northeastern Québec using allele-specific oligonucleotide (ASO) hybridization. This procedure is being incorporated into the diagnosis of ARSACS, as well as being used for carrier detection in at-risk families from northeastern Québec. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|