ParkinsonFranceV1, Pmc, Corpus, bibRecord, 000001

Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects

Identifieur interne : 000001 ( Pmc/Corpus ); précédent : 000000; suivant : 000002

Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects

Auteurs : Magali Periquet ; Christoph B. Lücking ; Jenny R. Vaughan ; Vincenzo Bonifati ; Alexandra Dürr ; Giuseppe De Michele ; Martin W. Horstink ; Matt Farrer ; Sergei N. Illarioshkin ; Pierre Pollak ; Michel Borg ; Christine Brefel-Courbon ; Patrice Denefle ; Giuseppe Meco ; Thomas Gasser ; Monique M. B. Breteler ; Nick W. Wood ; Yves Agid ; Alexis Brice

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2001.

RBID : PMC:1274475

Abstract

A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM region known to contain the parkin gene, was performed in 48 families, mostly from European countries, with early-onset autosomal recessive parkinsonism. The patients carried 14 distinct mutations in the parkin gene, and each mutation was detected in more than one family. Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1274475

PubMed: 11179010
PubMed Central: 1274475

Links to Exploration step

PMC:1274475

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Origin of the Mutations in the <italic>parkin</italic>
 Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects</title>
<author><name sortKey="Periquet, Magali" sort="Periquet, Magali" uniqKey="Periquet M" first="Magali" last="Periquet">Magali Periquet</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">INSERM U289,</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lucking, Christoph B" sort="Lucking, Christoph B" uniqKey="Lucking C" first="Christoph B." last="Lücking">Christoph B. Lücking</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vaughan, Jenny R" sort="Vaughan, Jenny R" uniqKey="Vaughan J" first="Jenny R." last="Vaughan">Jenny R. Vaughan</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Institute of Neurology, London;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Horstink, Martin W" sort="Horstink, Martin W" uniqKey="Horstink M" first="Martin W." last="Horstink">Martin W. Horstink</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Academisch Ziekenhuis Nijmegen, Nijmegen, The Netherlands;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Laboratory of Neurogenetics, Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N." last="Illarioshkin">Sergei N. Illarioshkin</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Department of Neurogenetics, Institute of Neurology, Moscow;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Clinique Neurologique, Centre Hospitalier Universitaire de Grenoble, Grenoble;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Service de Neurologie, Hôpital Pasteur, Nice;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brefel Courbon, Christine" sort="Brefel Courbon, Christine" uniqKey="Brefel Courbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">INSERM U317, Service de Pharmacologie Clinique, Toulouse;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Denefle, Patrice" sort="Denefle, Patrice" uniqKey="Denefle P" first="Patrice" last="Denefle">Patrice Denefle</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Biotechnology Department, Aventis Pharma, Vitry sur Seine, France;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation><nlm:aff wicri:cut="; and" id="N0x98408e8.0x977d9e0">Neurologische Klinik der Ludwig-Maximilians-Universität, Munich</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Breteler, Monique M B" sort="Breteler, Monique M B" uniqKey="Breteler M" first="Monique M. B." last="Breteler">Monique M. B. Breteler</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Department of Epidemiology and Biostatistics, Rotterdam</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wood, Nick W" sort="Wood, Nick W" uniqKey="Wood N" first="Nick W." last="Wood">Nick W. Wood</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Institute of Neurology, London;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">11179010</idno>
<idno type="pmc">1274475</idno>
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<idno type="RBID">PMC:1274475</idno>
<date when="2001">2001</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Origin of the Mutations in the <italic>parkin</italic>
 Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects</title>
<author><name sortKey="Periquet, Magali" sort="Periquet, Magali" uniqKey="Periquet M" first="Magali" last="Periquet">Magali Periquet</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">INSERM U289,</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lucking, Christoph B" sort="Lucking, Christoph B" uniqKey="Lucking C" first="Christoph B." last="Lücking">Christoph B. Lücking</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vaughan, Jenny R" sort="Vaughan, Jenny R" uniqKey="Vaughan J" first="Jenny R." last="Vaughan">Jenny R. Vaughan</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Institute of Neurology, London;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Horstink, Martin W" sort="Horstink, Martin W" uniqKey="Horstink M" first="Martin W." last="Horstink">Martin W. Horstink</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Academisch Ziekenhuis Nijmegen, Nijmegen, The Netherlands;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Laboratory of Neurogenetics, Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Illarioshkin, Sergei N" sort="Illarioshkin, Sergei N" uniqKey="Illarioshkin S" first="Sergei N." last="Illarioshkin">Sergei N. Illarioshkin</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Department of Neurogenetics, Institute of Neurology, Moscow;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Clinique Neurologique, Centre Hospitalier Universitaire de Grenoble, Grenoble;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Service de Neurologie, Hôpital Pasteur, Nice;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brefel Courbon, Christine" sort="Brefel Courbon, Christine" uniqKey="Brefel Courbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">INSERM U317, Service de Pharmacologie Clinique, Toulouse;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Denefle, Patrice" sort="Denefle, Patrice" uniqKey="Denefle P" first="Patrice" last="Denefle">Patrice Denefle</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Biotechnology Department, Aventis Pharma, Vitry sur Seine, France;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation><nlm:aff wicri:cut="; and" id="N0x98408e8.0x977d9e0">Neurologische Klinik der Ludwig-Maximilians-Universität, Munich</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Breteler, Monique M B" sort="Breteler, Monique M B" uniqKey="Breteler M" first="Monique M. B." last="Breteler">Monique M. B. Breteler</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Department of Epidemiology and Biostatistics, Rotterdam</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wood, Nick W" sort="Wood, Nick W" uniqKey="Wood N" first="Nick W." last="Wood">Nick W. Wood</name>
<affiliation><nlm:aff id="N0x98408e8.0x977d9e0">Institute of Neurology, London;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2001">2001</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>A wide variety of mutations in the <italic>parkin</italic>
 gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM region known to contain the <italic>parkin</italic>
 gene, was performed in 48 families, mostly from European countries, with early-onset autosomal recessive parkinsonism. The patients carried 14 distinct mutations in the <italic>parkin</italic>
 gene, and each mutation was detected in more than one family. Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="publisher-id">AJHG</journal-id>
<journal-title>American Journal of Human Genetics</journal-title>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>The American Society of Human Genetics</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">11179010</article-id>
<article-id pub-id-type="pmc">1274475</article-id>
<article-id pub-id-type="publisher-id">002436</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Articles</subject>
</subj-group>
</article-categories>
<title-group><article-title>Origin of the Mutations in the <italic>parkin</italic>
 Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects</article-title>
<alt-title>Origin of <italic>parkin</italic>
 Gene Mutations</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Periquet</surname>
<given-names>Magali</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lücking</surname>
<given-names>Christoph B.</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">1,</xref>
<xref ref-type="fn" rid="FN1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vaughan</surname>
<given-names>Jenny R.</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bonifati</surname>
<given-names>Vincenzo</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dürr</surname>
<given-names>Alexandra</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">1,2,3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Michele</surname>
<given-names>Giuseppe</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Horstink</surname>
<given-names>Martin W.</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Farrer</surname>
<given-names>Matt</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Illarioshkin</surname>
<given-names>Sergei N.</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pollak</surname>
<given-names>Pierre</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Borg</surname>
<given-names>Michel</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brefel-Courbon</surname>
<given-names>Christine</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Denefle</surname>
<given-names>Patrice</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meco</surname>
<given-names>Giuseppe</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gasser</surname>
<given-names>Thomas</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Breteler</surname>
<given-names>Monique M. B.</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wood</surname>
<given-names>Nick W.</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Agid</surname>
<given-names>Yves</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">1,3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brice</surname>
<given-names>Alexis</given-names>
</name>
<xref ref-type="aff" rid="N0x98408e8.0x977d9e0">1,2,3</xref>
</contrib>
<contrib><collab collab-type="authors">the French Parkinson’s Disease Genetics Study Group,</collab>
<xref ref-type="fn" rid="FN2">†</xref>
</contrib>
<contrib><collab collab-type="authors">the European Consortium on Genetic Susceptibility in Parkinson’s Disease</collab>
<xref ref-type="fn" rid="FN2">†</xref>
</contrib>
</contrib-group>
<aff id="N0x98408e8.0x977d9e0"><sup>1</sup>
INSERM U289,<sup>2</sup>
Consultation de Génétique Médicale, and<sup>3</sup>
Fédération de Neurologie, Hôpital de la Salpêtrière, Paris;<sup>4</sup>
Institute of Neurology, London;<sup>5</sup>
Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;<sup>6</sup>
Dipartimento di Scienze Neurologiche, Università Federico II, Naples;<sup>7</sup>
Academisch Ziekenhuis Nijmegen, Nijmegen, The Netherlands;<sup>8</sup>
Laboratory of Neurogenetics, Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida;<sup>9</sup>
Department of Neurogenetics, Institute of Neurology, Moscow;<sup>10</sup>
Clinique Neurologique, Centre Hospitalier Universitaire de Grenoble, Grenoble;<sup>11</sup>
Service de Neurologie, Hôpital Pasteur, Nice;<sup>12</sup>
INSERM U317, Service de Pharmacologie Clinique, Toulouse;<sup>13</sup>
Biotechnology Department, Aventis Pharma, Vitry sur Seine, France;<sup>14</sup>
Neurologische Klinik der Ludwig-Maximilians-Universität, Munich; and<sup>15</sup>
Department of Epidemiology and Biostatistics, Rotterdam</aff>
<author-notes><corresp>Address for correspondence and reprints: Dr. Alexis Brice, INSERM U289, Hôpital de la Salpêtrière, 47 Boulevard de l’Hôpital, 75651 Paris, Cedex 13, France. E-mail: <email>brice@ccr.jussieu.fr</email>
</corresp>
<fn id="FN1"><label>*</label>
<p>Present affiliation: Neurologische Klinik der Ludwig-Maximilians-Universität, Munich, Germany.</p>
</fn>
<fn id="FN2"><label>†</label>
<p>Members of the French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s Disease are listed in the Appendix.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><month>3</month>
<year>2001</year>
</pub-date>
<pub-date pub-type="epub"><day>14</day>
<month>2</month>
<year>2001</year>
</pub-date>
<volume>68</volume>
<issue>3</issue>
<fpage>617</fpage>
<lpage>626</lpage>
<history><date date-type="received"><day>6</day>
<month>11</month>
<year>2000</year>
</date>
<date date-type="accepted"><day>2</day>
<month>1</month>
<year>2001</year>
</date>
</history>
<copyright-statement>© 2001 by The American Society of Human Genetics. All rights reserved.</copyright-statement>
<copyright-year>2001</copyright-year>
<self-uri>11179010</self-uri>
<abstract><p>A wide variety of mutations in the <italic>parkin</italic>
 gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM region known to contain the <italic>parkin</italic>
 gene, was performed in 48 families, mostly from European countries, with early-onset autosomal recessive parkinsonism. The patients carried 14 distinct mutations in the <italic>parkin</italic>
 gene, and each mutation was detected in more than one family. Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder.</p>
</abstract>
</article-meta>
</front>
</pmc>
</record>

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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects

Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects

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