Article
Rapid touchdown PCR assay for the molecular diagnosis of spinocerebellar ataxia type 2.
International journal of clinical & laboratory research - 1 Jan 1998
Condorelli D F, Trovato-Salinaro A, Spinella F, Valvo S, Saponara R, Giuffrida S
Abstract excerpt
Seven different chromosomal loci, designated SCA1 to SCA7 (spinocerebellar ataxias), have been identified as responsible for autosomal dominant cerebellar ataxias. Five genes (SCA1, 2, 3, 6, 7) have been cloned to date and show a single type of mutation, an unstable expansion of a CAG repeat codi...
Topics
- Alleles
- DNA Mutational Analysis
- Family Health
- Female
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Spinocerebellar Degenerations
- Trinucleotide Repeats