Abstract
α-Synuclein is mutated in rare autosomal dominant forms of Parkinson's disease and is a major component of Lewy bodies and neurites. Synphilin-1, a novel protein interacts in vivo and co-localises with α-synuclein in Lewy bodies. We analysed the synphilin-1 gene in familial Parkinson's disease by single-strand conformation polymorphism (SSCP) and automated sequencing but found no coding mutations. However, we identified two novel intronic polymorphisms; an A/T polymorphism in intron 2, resulting in the introduction of an Alu1 site and a second G/T polymorphism in intron 4. We analysed the intron 2 polymorphism for allelic association as it was conducive to rapid screening but observed no changes in frequency between Parkinson's disease cases and controls.
Original language | English (US) |
---|---|
Pages (from-to) | 125-127 |
Number of pages | 3 |
Journal | Neuroscience Letters |
Volume | 307 |
Issue number | 2 |
DOIs | |
State | Published - Jul 13 2001 |
Keywords
- Association study
- Genetics
- Intronic
- Parkinson's disease
- Polymorphism
- Synphilin-1
ASJC Scopus subject areas
- Neuroscience(all)