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 Ottman; Karen Marder

doi:10.1002/mds.21419

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 journal › Article › peer-review

17 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 language	English (US)
Pages (from-to)	932-937
Number of pages	6
Journal	Movement Disorders
Volume	22
Issue number	7
DOIs	https://doi.org/10.1002/mds.21419
State	Published - May 15 2007
Externally published	Yes

Keywords

Chip
Genetic epidemiology
Genotyping array
Mutation
Parkin
Parkinson's disease

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.21419

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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

Clark, LN, Haamer, E, Mejia-Santana, H, Harris, J, Lesage, S, Durr, A, Janin, S, Hedrich, K, Louis, ED, Cote, LJ, Andrews, H, Fahn, S, Waters, C, Ford, B, Frucht, S, Scott, W, Klein, C, Brice, A, Roomere, H, Ottman, R & Marder, K 2007, 'Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene', Movement Disorders, vol. 22, no. 7, pp. 932-937. https://doi.org/10.1002/mds.21419

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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.",

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AU - Scott, William

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

Abstract

Keywords

ASJC Scopus subject areas

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