Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Identifieur interne : 001B60 ( Ncbi/Checkpoint ); précédent : 001B59; suivant : 001B61Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Auteurs : Lorraine N. Clark [États-Unis] ; 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
Affiliations:
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LC654@columbia.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Columbia University, New York, New York 10032</wicri:regionArea><orgName type="university">Université Columbia</orgName><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name></author><author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D" last="Louis">Elan D. Louis</name></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J" last="Cote">Lucien J. 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Clark</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology, Columbia University, New York, New York 10032, USA. LC654@columbia.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Columbia University, New York, New York 10032</wicri:regionArea><orgName type="university">Université Columbia</orgName><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name></author><author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D" last="Louis">Elan D. Louis</name></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J" last="Cote">Lucien J. Cote</name></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name></author><author><name sortKey="Scott, William" sort="Scott, William" uniqKey="Scott W" first="William" last="Scott">William Scott</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Roomere, Hanno" sort="Roomere, Hanno" uniqKey="Roomere H" first="Hanno" last="Roomere">Hanno Roomere</name></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Family Health</term><term>Gene Expression Profiling (methods)</term><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><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Gene Expression Profiling</term><term>Oligonucleotide Array Sequence Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Family Health</term><term>Genetics, Population</term><term>Genotype</term><term>Humans</term><term>Mutation</term><term>Reproducibility of Results</term><term>Retrospective Studies</term></keywords></textClass></profileDesc></teiHeader><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></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region><settlement><li>New York</li></settlement><orgName><li>Université Columbia</li></orgName></list><tree><noCountry><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J" last="Cote">Lucien J. Cote</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D" last="Louis">Elan D. Louis</name><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><name sortKey="Roomere, Hanno" sort="Roomere, Hanno" uniqKey="Roomere H" first="Hanno" last="Roomere">Hanno Roomere</name><name sortKey="Scott, William" sort="Scott, William" uniqKey="Scott W" first="William" last="Scott">William Scott</name><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. 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