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Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Authors:Lorraine N Clark  Eneli Haamer  Helen Mejia-Santana  Juliette Harris  Suzanne Lesage  Alexandra Durr  Sabine Janin Bs  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 Ottman  Karen Marder
Affiliation:Department of Pathology, Columbia University, New York, New York 10032, USA. LC654@columbia.edu
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.
Keywords:Parkin, Parkinson's disease  mutation  genotyping array  chip  genetic epidemiology
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