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 K Scott, Christine Klein, Alexis Brice, Hanno Roomere, Ruth Ottman & 1 others Karen Marder

Research output: Contribution to journalArticle

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

Fingerprint

Parkinson Disease
Mutation
Genes
Molecular Epidemiology
Macular Degeneration
Oligonucleotide Array Sequence Analysis

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Clark, L. N., Haamer, E., Mejia-Santana, H., Harris, J., Lesage, S., Durr, A., ... 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

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. / Clark, Lorraine N.; Haamer, Eneli; Mejia-Santana, Helen; Harris, Juliette; Lesage, Suzanne; Durr, Alexandra; Janin, Sabine; Hedrich, Katja; Louis, Elan D.; Cote, Lucien J.; Andrews, Howard; Fahn, Stanley; Waters, Cheryl; Ford, Blair; Frucht, Steven; Scott, William K; Klein, Christine; Brice, Alexis; Roomere, Hanno; Ottman, Ruth; Marder, Karen.

In: Movement Disorders, Vol. 22, No. 7, 15.05.2007, p. 932-937.

Research output: Contribution to journalArticle

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, WK, 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
Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, Durr A et al. Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Movement Disorders. 2007 May 15;22(7):932-937. https://doi.org/10.1002/mds.21419
Clark, Lorraine N. ; Haamer, Eneli ; Mejia-Santana, Helen ; Harris, Juliette ; Lesage, Suzanne ; Durr, Alexandra ; Janin, Sabine ; Hedrich, Katja ; Louis, Elan D. ; Cote, Lucien J. ; Andrews, Howard ; Fahn, Stanley ; Waters, Cheryl ; Ford, Blair ; Frucht, Steven ; Scott, William K ; Klein, Christine ; Brice, Alexis ; Roomere, Hanno ; Ottman, Ruth ; Marder, Karen. / Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. In: Movement Disorders. 2007 ; Vol. 22, No. 7. pp. 932-937.
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