Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
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.
Clark
Lorraine N
LN
Department of Pathology, Columbia University, New York, New York 10032, USA. LC654@columbia.edu
Haamer
Eneli
E
Mejia-Santana
Helen
H
Harris
Juliette
J
Lesage
Suzanne
S
Durr
Alexandra
A
Bs
Sabine Janin
SJ
Hedrich
Katja
K
Louis
Elan D
ED
Cote
Lucien J
LJ
Andrews
Howard
H
Fahn
Stanley
S
Waters
Cheryl
C
Ford
Blair
B
Frucht
Steven
S
Scott
William
W
Klein
Christine
C
Brice
Alexis
A
Roomere
Hanno
H
Ottman
Ruth
R
Marder
Karen
K
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*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein