Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay

Genet Test. Fall 2001;5(3):255-9. doi: 10.1089/10906570152742326.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA / blood
  • DNA Mutational Analysis*
  • Heat-Shock Proteins / genetics*
  • Humans
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Quebec
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics*

Substances

  • Heat-Shock Proteins
  • Oligonucleotide Probes
  • SACS protein, human
  • DNA