A genetic cluster of early onset Parkinson's disease in a Colombian population
Identifieur interne : 000151 ( France/Analysis ); précédent : 000150; suivant : 000152A 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 Lees (neurologue) [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.
English descriptors
- KwdEn :
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.
Url:
DOI: 10.1002/ajmg.b.30375
Affiliations:
- Colombie, Espagne, France, Royaume-Uni
- Angleterre, Communauté de Madrid, Grand Londres
- Londres, Madrid, Paris
- National Hospital for Neurology and Neurosurgery
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sortKey="Uribe, Carlos Santiago" sort="Uribe, Carlos Santiago" uniqKey="Uribe C" first="Carlos Santiago" last="Uribe">Carlos Santiago Uribe</name><affiliation wicri:level="1"><country xml:lang="fr">Colombie</country><wicri:regionArea>Grupo de Neurociencias, Universidad de Antioquia, Medellin</wicri:regionArea><wicri:noRegion>Medellin</wicri:noRegion></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="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundacion Jimenez Diaz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation 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London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Colombie</country><wicri:regionArea>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin</wicri:regionArea><wicri:noRegion>Medellin</wicri:noRegion></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><affiliations><list><country><li>Colombie</li><li>Espagne</li><li>France</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Communauté de Madrid</li><li>Grand Londres</li></region><settlement><li>Londres</li><li>Madrid</li><li>Paris</li></settlement><orgName><li>National Hospital for Neurology and Neurosurgery</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Pineda Rujillo, Nicolas" sort="Pineda Rujillo, Nicolas" uniqKey="Pineda Rujillo N" first="Nicolas" last="Pineda-Trujillo">Nicolas Pineda-Trujillo</name></region><name sortKey="Apergi, Maria" sort="Apergi, Maria" uniqKey="Apergi M" first="Maria" last="Apergi">Maria Apergi</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Ruiz Inares, Andres" sort="Ruiz Inares, Andres" uniqKey="Ruiz Inares A" first="Andres" last="Ruiz-Linares">Andres Ruiz-Linares</name></country><country name="Colombie"><noRegion><name sortKey="Pineda Rujillo, Nicolas" sort="Pineda Rujillo, Nicolas" uniqKey="Pineda Rujillo N" first="Nicolas" last="Pineda-Trujillo">Nicolas Pineda-Trujillo</name></noRegion><name sortKey="Arias, William" sort="Arias, William" uniqKey="Arias W" first="William" last="Arias">William Arias</name><name sortKey="Bedoya, Gabriel" sort="Bedoya, Gabriel" uniqKey="Bedoya G" first="Gabriel" last="Bedoya">Gabriel Bedoya</name><name sortKey="Buritica, Omar" sort="Buritica, Omar" uniqKey="Buritica O" first="Omar" last="Buriticá">Omar Buriticá</name><name sortKey="Cano, David" sort="Cano, David" uniqKey="Cano D" first="David" last="Cano">David Cano</name><name sortKey="Franco, Alejandro" sort="Franco, Alejandro" uniqKey="Franco A" first="Alejandro" last="Franco">Alejandro Franco</name><name sortKey="Lopera, Francisco" sort="Lopera, Francisco" uniqKey="Lopera F" first="Francisco" last="Lopera">Francisco Lopera</name><name sortKey="Moreno, Sonia" sort="Moreno, Sonia" uniqKey="Moreno S" first="Sonia" last="Moreno">Sonia Moreno</name><name sortKey="Pineda, David" sort="Pineda, David" uniqKey="Pineda D" first="David" last="Pineda">David Pineda</name><name sortKey="Ruiz Inares, Andres" sort="Ruiz Inares, Andres" uniqKey="Ruiz Inares A" first="Andres" last="Ruiz-Linares">Andres Ruiz-Linares</name><name sortKey="Sepulveda Alla, Diego" sort="Sepulveda Alla, Diego" uniqKey="Sepulveda Alla D" first="Diego" last="Sepulveda-Falla">Diego Sepulveda-Falla</name><name sortKey="Uribe, Carlos Santiago" sort="Uribe, Carlos Santiago" uniqKey="Uribe C" first="Carlos Santiago" last="Uribe">Carlos Santiago Uribe</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></country><country name="Espagne"><region name="Communauté de Madrid"><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></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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