No pathogenic mutations in the synphilin-1 gene in Parkinson's disease

Rina Bandopadhyay, Rohan De Silva, Naheed Khan, Elizabeth Graham, Jenny Vaughan, Simone Engelender, Christopher Ross, Huw Morris, Christopher Morris, Nicholas W. Wood, Susan Daniel, Andrew Lees

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)125-127
Number of pages3
JournalNeuroscience Letters
Volume307
Issue number2
DOIs
StatePublished - Jul 13 2001

Keywords

  • Association study
  • Genetics
  • Intronic
  • Parkinson's disease
  • Polymorphism
  • Synphilin-1

ASJC Scopus subject areas

  • Neuroscience(all)

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