title: Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
abstract: 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.
authors.affiliation: Service de Génétique Médicale, Hôpital Sainte-Justine, Département de Pédiatrie, Université de Montréal, 3175 Côte Sainte Catherine, Montréal, Québec, Canada H3T 1C5.
authors.forename: J
authors.initials: J
authors.lastname: Mercier
authors.forename: C
authors.initials: C
authors.lastname: Prévost
authors.forename: J C
authors.initials: JC
authors.lastname: Engert
authors.forename: J P
authors.initials: JP
authors.lastname: Bouchard
authors.forename: J
authors.initials: J
authors.lastname: Mathieu
authors.forename: A
authors.initials: A
authors.lastname: Richter
mesh_terms: D000483:Alleles; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011792:Quebec; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006360:Heat-Shock Proteins; D015345:Oligonucleotide Probes; C404403:SACS protein, human; D004247:DNA