Serveur d'exploration sur la maladie de Parkinson

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Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

Identifieur interne : 001089 ( Main/Exploration ); précédent : 001088; suivant : 001090

Construction 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 :

RBID : ISTEX:F9EC524F009EFCA23B88AD101ACDD054F30DF33B

English descriptors

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:


Links toward previous steps (curation, corpus...)


Le document en format XML

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<wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York</wicri:regionArea>
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<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="volume">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>Parkin, Parkinson's disease</term>
<term>chip</term>
<term>genetic epidemiology</term>
<term>genotyping array</term>
<term>mutation</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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