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.
authors.affiliation: Department of Pathology, Columbia University, New York, New York 10032, USA. LC654@columbia.edu
authors.forename: Lorraine N
authors.initials: LN
authors.lastname: Clark
authors.forename: Eneli
authors.initials: E
authors.lastname: Haamer
authors.forename: Helen
authors.initials: H
authors.lastname: Mejia-Santana
authors.forename: Juliette
authors.initials: J
authors.lastname: Harris
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lesage
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Sabine Janin
authors.initials: SJ
authors.lastname: Bs
authors.forename: Katja
authors.initials: K
authors.lastname: Hedrich
authors.forename: Elan D
authors.initials: ED
authors.lastname: Louis
authors.forename: Lucien J
authors.initials: LJ
authors.lastname: Cote
authors.forename: Howard
authors.initials: H
authors.lastname: Andrews
authors.forename: Stanley
authors.initials: S
authors.lastname: Fahn
authors.forename: Cheryl
authors.initials: C
authors.lastname: Waters
authors.forename: Blair
authors.initials: B
authors.lastname: Ford
authors.forename: Steven
authors.initials: S
authors.lastname: Frucht
authors.forename: William
authors.initials: W
authors.lastname: Scott
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Hanno
authors.initials: H
authors.lastname: Roomere
authors.forename: Ruth
authors.initials: R
authors.lastname: Ottman
authors.forename: Karen
authors.initials: K
authors.lastname: Marder
mesh_terms: D005192:Family Health; D020869:Gene Expression Profiling / Q000379:methods*; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D015203:Reproducibility of Results; D012189:Retrospective Studies; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein