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

*Corresponding author for this work
16 Citations (Scopus)


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
JournalMovement Disorders
Issue number7
Pages (from-to)932-937
Number of pages6
Publication statusPublished - 15.05.2007


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