A genetic cluster of early onset Parkinson's disease in a Colombian population
Identifieur interne : 000B59 ( Istex/Curation ); précédent : 000B58; suivant : 000B60A genetic cluster of early onset Parkinson's disease in a Colombian population
Auteurs : Nicolas Pineda-Trujillo [Royaume-Uni, Colombie] ; Maria Apergi [Royaume-Uni] ; Sonia Moreno [Colombie] ; William Arias [Colombie] ; Suzanne Lesage [France] ; Alejandro Franco [Colombie] ; Diego Sepulveda-Falla [Colombie] ; David Cano [Colombie] ; Omar Buriticá [Colombie] ; David Pineda [Colombie] ; Carlos Santiago Uribe [Colombie] ; Justo Garcia De Yebenes [Espagne] ; Andrew J. Lees [Royaume-Uni] ; Alexis Brice [France] ; Gabriel Bedoya [Colombie] ; Francisco Lopera [Colombie] ; Andres Ruiz-Linares [Royaume-Uni, Colombie]Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2006-12-05.
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Abstract
We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.30375
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xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Arias, William" sort="Arias, William" uniqKey="Arias W" first="William" last="Arias">William Arias</name><affiliation wicri:level="1"><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurologie et Therapeutique Experimentale, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Franco, Alejandro" sort="Franco, Alejandro" uniqKey="Franco A" first="Alejandro" last="Franco">Alejandro Franco</name><affiliation wicri:level="1"><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Sepulveda Alla, Diego" sort="Sepulveda Alla, Diego" uniqKey="Sepulveda Alla D" first="Diego" last="Sepulveda-Falla">Diego Sepulveda-Falla</name><affiliation wicri:level="1"><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Cano, David" sort="Cano, David" uniqKey="Cano D" first="David" last="Cano">David Cano</name><affiliation wicri:level="1"><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Buritica, Omar" sort="Buritica, Omar" uniqKey="Buritica O" first="Omar" last="Buriticá">Omar Buriticá</name><affiliation wicri:level="1"><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Pineda, David" sort="Pineda, David" uniqKey="Pineda D" first="David" last="Pineda">David Pineda</name><affiliation wicri:level="1"><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Uribe, Carlos Santiago" sort="Uribe, Carlos Santiago" uniqKey="Uribe C" first="Carlos Santiago" last="Uribe">Carlos Santiago Uribe</name><affiliation wicri:level="1"><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="De Yebenes, Justo Garcia" sort="De Yebenes, Justo Garcia" uniqKey="De Yebenes J" first="Justo Garcia" last="De Yebenes">Justo Garcia De Yebenes</name><affiliation wicri:level="1"><mods:affiliation>Fundacion Jimenez Diaz, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundacion Jimenez Diaz, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation wicri:level="1"><mods:affiliation>Queen Square Brain Bank, University College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square Brain Bank, University College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurologie et Therapeutique Experimentale, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Bedoya, Gabriel" sort="Bedoya, Gabriel" uniqKey="Bedoya G" first="Gabriel" last="Bedoya">Gabriel Bedoya</name><affiliation wicri:level="1"><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Lopera, Francisco" sort="Lopera, Francisco" uniqKey="Lopera F" first="Francisco" last="Lopera">Francisco Lopera</name><affiliation wicri:level="1"><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation></author><author><name sortKey="Ruiz Inares, Andres" sort="Ruiz Inares, Andres" uniqKey="Ruiz Inares A" first="Andres" last="Ruiz-Linares">Andres Ruiz-Linares</name><affiliation wicri:level="1"><mods:affiliation>Galton Laboratory, University College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Galton Laboratory, University College London, London</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation><country xml:lang="fr">Colombie</country><wicri:regionArea>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Biology (Wolfson House), University College London, 4 Stephenson Way, London NW1 2HE, United Kingdom.</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Biology (Wolfson House), University College London, 4 Stephenson Way, London NW1 2HE</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-12-05">2006-12-05</date><biblScope unit="volume">141B</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="885">885</biblScope><biblScope unit="page" to="889">889</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">0C9FCE8D19391A0F4D97D715DF30E21D0598FC07</idno><idno type="DOI">10.1002/ajmg.b.30375</idno><idno type="ArticleID">AJMG30375</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson</term><term>founder effect</term><term>parkin</term><term>population isolate</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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