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

Bandopadhyay, R; de Silva, R; Khan, N; Graham, E; Vaughan, J; Engelender, S; Ross, C; ... Lees, A; + view all (2001) No pathogenic mutations in the synphilin-1 gene in Parkinson's disease. NEUROSCI LETT , 307 (2) 125 - 127.

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Abstract

alpha -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 alpha -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 GTT 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. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

Type: Article
Title: No pathogenic mutations in the synphilin-1 gene in Parkinson's disease
Keywords: synphilin-1, Parkinson's disease, intronic, polymorphism, genetics, association study, ALPHA-SYNUCLEIN GENE, LEWY BODIES
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/140143
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