Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
Identifieur interne : 002F40 ( Main/Exploration ); précédent : 002F39; suivant : 002F41Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
Auteurs : Lorraine N. Clark [États-Unis] ; Eneli Haamer [Estonie] ; Helen Mejia-Santana [États-Unis] ; Juliette Harris [États-Unis] ; Suzanne Lesage [France] ; Alexandra Durr [France] ; Sabine Janin Bs [France] ; Katja Hedrich [Allemagne] ; Elan D. Louis [États-Unis] ; Lucien J. Cote [États-Unis] ; Howard Andrews [États-Unis] ; Stanley Fahn [États-Unis] ; Cheryl Waters [États-Unis] ; Blair Ford [États-Unis] ; Steven Frucht [États-Unis] ; William Scott [États-Unis] ; Christine Klein [Allemagne] ; Alexis Brice [France] ; Hanno Roomere [Estonie] ; Ruth Ottman [États-Unis] ; Karen Marder [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-05-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Epidemiology, Family Health, Gene Expression Profiling (methods), Genetics, Population, Genotype, Humans, Mutation, Nervous system diseases, Oligonucleotide Array Sequence Analysis (methods), Parkin, Parkin, Parkinson's disease, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson disease, Reproducibility of Results, Retrospective Studies, Ubiquitin-Protein Ligases (genetics), Validation, chip, genetic epidemiology, genotyping array, mutation.
- 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. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21419
Affiliations:
- Allemagne, Estonie, France, États-Unis
- Caroline du Nord, État de New York, Île-de-France
- New York, Paris
- Université Columbia, Université Pierre-et-Marie-Curie
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Le document en format XML
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<wicri:regionArea>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York</wicri:regionArea>
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<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2007-05-15">2007-05-15</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">7</biblScope>
<biblScope unit="page" from="932">932</biblScope>
<biblScope unit="page" to="937">937</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">F9EC524F009EFCA23B88AD101ACDD054F30DF33B</idno>
<idno type="DOI">10.1002/mds.21419</idno>
<idno type="ArticleID">MDS21419</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Epidemiology</term>
<term>Family Health</term>
<term>Gene Expression Profiling (methods)</term>
<term>Genetics, Population</term>
<term>Genotype</term>
<term>Humans</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Oligonucleotide Array Sequence Analysis (methods)</term>
<term>Parkin</term>
<term>Parkin, Parkinson's disease</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Reproducibility of Results</term>
<term>Retrospective Studies</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Validation</term>
<term>chip</term>
<term>genetic epidemiology</term>
<term>genotyping array</term>
<term>mutation</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>
<keywords scheme="Pascal" xml:lang="fr"><term>Epidémiologie</term>
<term>Génotype</term>
<term>Mutation</term>
<term>Parkine</term>
<term>Parkinson maladie</term>
<term>Système nerveux pathologie</term>
<term>Validation</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</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. © 2007 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Estonie</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>Caroline du Nord</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>New York</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Columbia</li>
<li>Université Pierre-et-Marie-Curie</li>
</orgName>
</list>
<tree><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. Clark</name>
</region>
<name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name>
<name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name>
<name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name>
<name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</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="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name>
<name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
<name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</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="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana 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="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
<name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</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>
</country>
<country name="Estonie"><noRegion><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name>
</noRegion>
<name sortKey="Roomere, Hanno" sort="Roomere, Hanno" uniqKey="Roomere H" first="Hanno" last="Roomere">Hanno Roomere</name>
</country>
<country name="France"><noRegion><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
</noRegion>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</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="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name>
<name sortKey="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
</noRegion>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</country>
</tree>
</affiliations>
</record>
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