Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
Identifieur interne : 001887 ( Main/Corpus ); précédent : 001886; suivant : 001888Construction 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 [ 0885-3185 ] ; 2007-05-15.
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
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DOI: 10.1002/mds.21419
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Clark</name><affiliation><mods:affiliation>Department of Pathology, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name><affiliation><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation></affiliation></author><author><name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><affiliation><mods:affiliation>Gertrude H. 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Louis</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Scott, William" sort="Scott, William" uniqKey="Scott W" first="William" last="Scott">William Scott</name><affiliation><mods:affiliation>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Roomere, Hanno" sort="Roomere, Hanno" uniqKey="Roomere H" first="Hanno" last="Roomere">Hanno Roomere</name><affiliation><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:F9EC524F009EFCA23B88AD101ACDD054F30DF33B</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21419</idno><idno type="url">https://api.istex.fr/document/F9EC524F009EFCA23B88AD101ACDD054F30DF33B/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001887</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene</title><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><mods:affiliation>Department of Pathology, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name><affiliation><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation></affiliation></author><author><name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Scott, William" sort="Scott, William" uniqKey="Scott W" first="William" last="Scott">William Scott</name><affiliation><mods:affiliation>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Roomere, Hanno" sort="Roomere, Hanno" uniqKey="Roomere H" first="Hanno" last="Roomere">Hanno Roomere</name><affiliation><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation></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><istex><corpusName>wiley</corpusName><author><json:item><name>Lorraine N. Clark PhD</name><affiliations><json:string>Department of Pathology, Columbia University, New York, New York, USA</json:string><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Eneli Haamer Msc</name><affiliations><json:string>Asper Biotech, Tartu, Estonia</json:string></affiliations></json:item><json:item><name>Helen Mejia‐Santana MS</name><affiliations><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Juliette Harris PhD</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Suzanne Lesage PhD</name><affiliations><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</json:string></affiliations></json:item><json:item><name>Alexandra Durr MD, PhD</name><affiliations><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</json:string></affiliations></json:item><json:item><name>Sabine Janin Bs</name><affiliations><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</json:string></affiliations></json:item><json:item><name>Katja Hedrich PhD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Elan D. Louis MD, MS</name><affiliations><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Lucien J. Cote MD</name><affiliations><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Howard Andrews PhD</name><affiliations><json:string>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</json:string></affiliations></json:item><json:item><name>Stanley Fahn MD</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Cheryl Waters MD, FRCP</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Blair Ford MD, FRCP</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Steven Frucht MD</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>William Scott PhD</name><affiliations><json:string>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Alexis Brice MD</name><affiliations><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</json:string><json:string>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Hanno Roomere MSc</name><affiliations><json:string>Asper Biotech, Tartu, Estonia</json:string></affiliations></json:item><json:item><name>Ruth Ottman PhD</name><affiliations><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</json:string><json:string>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Karen Marder MD, MPH</name><affiliations><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string><json:string>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkin, Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genotyping array</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>chip</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic epidemiology</value></json:item></subject><articleId><json:string>MDS21419</json:string></articleId><language><json:string>eng</json:string></language><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</abstract><qualityIndicators><score>4.995</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>950</abstractCharCount><pdfWordCount>3375</pdfWordCount><pdfCharCount>23765</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>135</abstractWordCount></qualityIndicators><title>Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene</title><genre><json:string>article</json:string></genre><host><volume>22</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>6</total><last>937</last><first>932</first></pages><issn><json:string>0885-3185</json:string></issn><issue>7</issue><subject><json:item><value>Research Article</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21419</json:string></doi><id>F9EC524F009EFCA23B88AD101ACDD054F30DF33B</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/F9EC524F009EFCA23B88AD101ACDD054F30DF33B/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/F9EC524F009EFCA23B88AD101ACDD054F30DF33B/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/F9EC524F009EFCA23B88AD101ACDD054F30DF33B/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2007</date></publicationStmt><notesStmt><note>Unknown funding agency - No. NS36630;</note><note>Unknown funding agency - No. RR00645;</note><note>Parkinson's Disease Foundation</note><note>National Institutes of Health - No. NS32527 (NS41723‐01A1);</note><note>Lichtenberg grant from the Volkswagen foundation</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene</title><author><persName><forename type="first">Lorraine N.</forename><surname>Clark</surname></persName><roleName type="degree">PhD</roleName><note type="correspondence"><p>Correspondence: Department of Pathology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, Black Building BB513, 650 West 168th Street, New York, NY 10032</p></note><affiliation>Department of Pathology, Columbia University, New York, New York, USA</affiliation><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Eneli</forename><surname>Haamer</surname></persName><roleName type="degree">Msc</roleName><affiliation>Asper Biotech, Tartu, Estonia</affiliation></author><author><persName><forename type="first">Helen</forename><surname>Mejia‐Santana</surname></persName><roleName type="degree">MS</roleName><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Juliette</forename><surname>Harris</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Suzanne</forename><surname>Lesage</surname></persName><roleName type="degree">PhD</roleName><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation></author><author><persName><forename type="first">Alexandra</forename><surname>Durr</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation></author><author><persName><forename type="first">Sabine Janin</forename><surname>Bs</surname></persName><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation></author><author><persName><forename type="first">Katja</forename><surname>Hedrich</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Elan D.</forename><surname>Louis</surname></persName><roleName type="degree">MD, MS</roleName><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Lucien J.</forename><surname>Cote</surname></persName><roleName type="degree">MD</roleName><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Howard</forename><surname>Andrews</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</affiliation></author><author><persName><forename type="first">Stanley</forename><surname>Fahn</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Cheryl</forename><surname>Waters</surname></persName><roleName type="degree">MD, FRCP</roleName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Blair</forename><surname>Ford</surname></persName><roleName type="degree">MD, FRCP</roleName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Steven</forename><surname>Frucht</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">William</forename><surname>Scott</surname></persName><roleName type="degree">PhD</roleName><affiliation>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname></persName><roleName type="degree">MD</roleName><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Hanno</forename><surname>Roomere</surname></persName><roleName type="degree">MSc</roleName><affiliation>Asper Biotech, Tartu, Estonia</affiliation></author><author><persName><forename type="first">Ruth</forename><surname>Ottman</surname></persName><roleName type="degree">PhD</roleName><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Karen</forename><surname>Marder</surname></persName><roleName type="degree">MD, MPH</roleName><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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type="organization"><unparsedAffiliation>Department of Pathology, Columbia University, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="EE" type="organization"><unparsedAffiliation>Asper Biotech, Tartu, Estonia</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="FR" type="organization"><unparsedAffiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="FR" type="organization"><unparsedAffiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="FR" type="organization"><unparsedAffiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af10" countryCode="US" type="organization"><unparsedAffiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af11" countryCode="US" type="organization"><unparsedAffiliation>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</unparsedAffiliation></affiliation><affiliation xml:id="af12" countryCode="FR" type="organization"><unparsedAffiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af13" countryCode="US" type="organization"><unparsedAffiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af14" countryCode="US" type="organization"><unparsedAffiliation>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><i>Parkin</i>, Parkinson's disease</keyword><keyword xml:id="kwd2">mutation</keyword><keyword xml:id="kwd3">genotyping array</keyword><keyword xml:id="kwd4">chip</keyword><keyword xml:id="kwd5">genetic epidemiology</keyword></keywordGroup><fundingInfo><fundingAgency>Unknown funding agency</fundingAgency><fundingNumber>NS36630</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Unknown funding agency</fundingAgency><fundingNumber>RR00645</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Parkinson's Disease Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency><fundingNumber>NS32527 (NS41723‐01A1)</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Lichtenberg grant from the Volkswagen foundation</fundingAgency></fundingInfo><supportingInformation><p> This article includes supplementary material, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url> . </p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p><i>Parkin</i> 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 <i>Parkin</i> gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a <i>Parkin</i> mutation genotyping array (gene chip) that includes published <i>Parkin</i> sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for <i>Parkin</i> 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</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Genotyping Array for the Parkin Gene</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Construction and validation of a Parkinson's disease mutation genotyping array for the</title></titleInfo><name type="personal"><namePart type="given">Lorraine N.</namePart><namePart type="family">Clark</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Pathology, Columbia University, New York, New York, USA</affiliation><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><description>Correspondence: Department of Pathology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, Black Building BB513, 650 West 168th Street, New York, NY 10032</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eneli</namePart><namePart type="family">Haamer</namePart><namePart type="termsOfAddress">Msc</namePart><affiliation>Asper Biotech, Tartu, Estonia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helen</namePart><namePart type="family">Mejia‐Santana</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Juliette</namePart><namePart type="family">Harris</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Suzanne</namePart><namePart type="family">Lesage</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra</namePart><namePart type="family">Durr</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sabine Janin</namePart><namePart type="family">Bs</namePart><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Hedrich</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elan D.</namePart><namePart type="family">Louis</namePart><namePart type="termsOfAddress">MD, MS</namePart><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lucien J.</namePart><namePart type="family">Cote</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Howard</namePart><namePart type="family">Andrews</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stanley</namePart><namePart type="family">Fahn</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cheryl</namePart><namePart type="family">Waters</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Blair</namePart><namePart type="family">Ford</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Steven</namePart><namePart type="family">Frucht</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William</namePart><namePart type="family">Scott</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hanno</namePart><namePart type="family">Roomere</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Asper Biotech, Tartu, Estonia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruth</namePart><namePart type="family">Ottman</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karen</namePart><namePart type="family">Marder</namePart><namePart type="termsOfAddress">MD, MPH</namePart><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-05-15</dateIssued><dateCaptured encoding="w3cdtf">2006-07-10</dateCaptured><dateValid encoding="w3cdtf">2006-12-20</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">1</extent><extent unit="references">40</extent><extent unit="words">3989</extent></physicalDescription><abstract 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</abstract><note type="funding">Unknown funding agency - No. NS36630; </note><note type="funding">Unknown funding agency - No. RR00645; </note><note type="funding">Parkinson's Disease Foundation</note><note type="funding">National Institutes of Health - No. NS32527 (NS41723‐01A1); </note><note type="funding">Lichtenberg grant from the Volkswagen foundation</note><subject lang="en"><genre>Keywords</genre><topic>Parkin, Parkinson's disease</topic><topic>mutation</topic><topic>genotyping array</topic><topic>chip</topic><topic>genetic epidemiology</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><note type="content"> This article includes supplementary material, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat .</note><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>932</start><end>937</end><total>6</total></extent></part></relatedItem><identifier type="istex">F9EC524F009EFCA23B88AD101ACDD054F30DF33B</identifier><identifier type="DOI">10.1002/mds.21419</identifier><identifier type="ArticleID">MDS21419</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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