Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

Lorraine N. Clark, Eneli Haamer, Helen Mejia-Santana, Juliette Harris, Suzanne Lesage, Alexandra Durr, Sabine Janin, Katja Hedrich, Elan D. Louis, Lucien J. Cote, Howard Andrews, Stanley Fahn, Cheryl Waters, Blair Ford, Steven Frucht, William Scott, Christine Klein, Alexis Brice, Hanno Roomere, Ruth OttmanKaren Marder

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.

Original languageEnglish (US)
Pages (from-to)932-937
Number of pages6
JournalMovement Disorders
Volume22
Issue number7
DOIs
StatePublished - May 15 2007

Keywords

  • Chip
  • Genetic epidemiology
  • Genotyping array
  • Mutation
  • Parkin
  • Parkinson's disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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  • Cite this

    Clark, L. N., Haamer, E., Mejia-Santana, H., Harris, J., Lesage, S., Durr, A., Janin, S., Hedrich, K., Louis, E. D., Cote, L. J., Andrews, H., Fahn, S., Waters, C., Ford, B., Frucht, S., Scott, W., Klein, C., Brice, A., Roomere, H., ... Marder, K. (2007). Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Movement Disorders, 22(7), 932-937. https://doi.org/10.1002/mds.21419