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

^*Corresponding author for this work

Institute of Neurogenetics

16 Citations (Scopus)

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
Journal	Movement Disorders
Volume	22
Issue number	7
Pages (from-to)	932-937
Number of pages	6
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.21419
Publication status	Published - 15.05.2007

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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

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

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.",

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

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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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T1 - Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

AU - Clark, Lorraine N.

AU - Haamer, Eneli

AU - Mejia-Santana, Helen

AU - Harris, Juliette

AU - Lesage, Suzanne

AU - Durr, Alexandra

AU - Janin, Sabine

AU - Hedrich, Katja

AU - Louis, Elan D.

AU - Cote, Lucien J.

AU - Andrews, Howard

AU - Fahn, Stanley

AU - Waters, Cheryl

AU - Ford, Blair

AU - Frucht, Steven

AU - Scott, William

AU - Klein, Christine

AU - Brice, Alexis

AU - Roomere, Hanno

AU - Ottman, Ruth

AU - Marder, Karen

PY - 2007/5/15

Y1 - 2007/5/15

N2 - 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.

AB - 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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SN - 0885-3185

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SP - 932

EP - 937

JO - Movement Disorders

JF - Movement Disorders

IS - 7

ER -

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

Abstract

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