A novel polymorphic triplet repeat in intron five of the α-synuclein gene

No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish

Owen A. Ross, Nuri H. Awayn, Deborah McWhinney, Lynn D. Maxwell, Omar Ali El-Agnaf, Yvonne A. Barnett, I. Maeve Rea, Derek Middleton, Andrew Wallace, J. Mark Gibson, Martin D. Curran

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The recent discovery of two mutations associated with autosomal dominant Parkinson's disease (PD) has led to the hypothesis that the α-synuclein gene plays a role in the pathogenesis of PD. Here we report a novel triplet CAA repeat within the unusually large intron 5 sequence of the α-synuclein gene. Microsatellite analysis revealed a high degree of polymorphism within the Irish population with seven alleles detected, ranging from eight to 17 CAA repeats. Analysis of the allele/genotype frequency differences observed between an Irish idiopathic PD cohort (n=98) and a healthy aged control group (n=92) revealed no strong association with either group. All PD subjects displaying homozygous profiles were examined for expansion of the trinucleotide repeat, but no expansion was observed. These results would suggest that polymorphism of the α-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.

Original languageEnglish
Pages (from-to)1621-1625
Number of pages5
JournalNeuroReport
Volume13
Issue number13
Publication statusPublished - 16 Sep 2002
Externally publishedYes

Fingerprint

Synucleins
Trinucleotide Repeats
Introns
Parkinson Disease
Genes
Trinucleotide Repeat Expansion
Gene Frequency
Microsatellite Repeats
Alleles
Genotype
Control Groups
Mutation
Population

Keywords

  • α-Synuclein
  • CAA trinucleotide repeat
  • Parkinson's Disease

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

A novel polymorphic triplet repeat in intron five of the α-synuclein gene : No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish. / Ross, Owen A.; Awayn, Nuri H.; McWhinney, Deborah; Maxwell, Lynn D.; Ali El-Agnaf, Omar; Barnett, Yvonne A.; Maeve Rea, I.; Middleton, Derek; Wallace, Andrew; Gibson, J. Mark; Curran, Martin D.

In: NeuroReport, Vol. 13, No. 13, 16.09.2002, p. 1621-1625.

Research output: Contribution to journalArticle

Ross, OA, Awayn, NH, McWhinney, D, Maxwell, LD, Ali El-Agnaf, O, Barnett, YA, Maeve Rea, I, Middleton, D, Wallace, A, Gibson, JM & Curran, MD 2002, 'A novel polymorphic triplet repeat in intron five of the α-synuclein gene: No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish', NeuroReport, vol. 13, no. 13, pp. 1621-1625.
Ross, Owen A. ; Awayn, Nuri H. ; McWhinney, Deborah ; Maxwell, Lynn D. ; Ali El-Agnaf, Omar ; Barnett, Yvonne A. ; Maeve Rea, I. ; Middleton, Derek ; Wallace, Andrew ; Gibson, J. Mark ; Curran, Martin D. / A novel polymorphic triplet repeat in intron five of the α-synuclein gene : No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish. In: NeuroReport. 2002 ; Vol. 13, No. 13. pp. 1621-1625.
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