Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

Andrew B. West, Alexander Zimprich, Paul J. Lockhart, Matthew Farrer, Andrew Singleton, Benjamin Holtom, Sarah Lincoln, Anne Hofer, Lori Hill, Bertram Müller-Myhsok, Zbigniew K. Wszolek, John Hardy, Thomas Gasser

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity, resting tremor and postural instability resulting from the deficiency of dopamine in the nigrostriatal system. Previously we mapped a susceptibility gene for an autosomal dominant form of PD to a 10.6 cM region of chromosome 2p (PARK3; OMIM 602404). A common haplotype shared by two North American kindreds (Families B and C) genealogically traced to Southern Denmark and Northern Germany suggested a founder effect. Here we report progress in the refinement of the PARK3 locus and sequence analysis of candidate genes within the region. Members of families B and C were genotyped using polymorphic markers, reducing the minimum common haplotype to eight markers spanning a physical distance of 2.5 Mb. Analysis of 14 genes within the region did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely candidates for PARK3.

Original languageEnglish (US)
Pages (from-to)659-666
Number of pages8
JournalEuropean Journal of Human Genetics
Volume9
Issue number9
DOIs
StatePublished - 2001

Keywords

  • Chromosome 2p13
  • Genetic and physical mapping
  • PARK3
  • Parkinson's disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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