Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Identifieur interne : 002779 ( PubMed/Corpus ); précédent : 002778; suivant : 002780Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Auteurs : Lorraine N. Clark ; Eneli Haamer ; Helen Mejia-Santana ; Juliette Harris ; Suzanne Lesage ; Alexandra Durr ; Sabine Janin Bs ; 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 MarderSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Family Health, Gene Expression Profiling (methods), Genetics, Population, Genotype, Humans, Mutation, Oligonucleotide Array Sequence Analysis (methods), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Reproducibility of Results, Retrospective Studies, Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease.
- methods : Gene Expression Profiling, Oligonucleotide Array Sequence Analysis.
- Family Health, Genetics, Population, Genotype, Humans, Mutation, Reproducibility of Results, Retrospective Studies.
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.
DOI: 10.1002/mds.21419
PubMed: 17415800
Links to Exploration step
pubmed:17415800Le document en format XML
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<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
<affiliation><nlm:affiliation>Department of Pathology, Columbia University, New York, New York 10032, USA. LC654@columbia.edu</nlm:affiliation>
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<author><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name>
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<term>Genetics, Population</term>
<term>Genotype</term>
<term>Humans</term>
<term>Mutation</term>
<term>Oligonucleotide Array Sequence Analysis (methods)</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Reproducibility of Results</term>
<term>Retrospective Studies</term>
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<term>Oligonucleotide Array Sequence Analysis</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation>
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