Linkage exclusion in French families with probable Parkinson' s disease.
Identifieur interne : 007090 ( Main/Merge ); précédent : 007089; suivant : 007091Linkage exclusion in French families with probable Parkinson' s disease.
Auteurs : M. Farrer [États-Unis] ; T. Destée ; E. Becquet ; F. Wavrant-De Vrièze ; V. Mouroux ; F. Richard ; L. Defebvre ; S. Lincoln ; J. Hardy ; P. Amouyel ; M C Chartier-HarlinSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Chromosomes, Human, Pair 17 (genetics), Chromosomes, Human, Pair 2 (genetics), Chromosomes, Human, Pair 4 (genetics), Chromosomes, Human, Pair 6 (genetics), Cluster Analysis, Female, France, Genetic Linkage, Haplotypes, Humans, Ligases (genetics), Male, Middle Aged, Mutation, Nerve Tissue Proteins (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Pedigree, Sex Distribution, Synucleins, Thiolester Hydrolases (genetics), Ubiquitin Thiolesterase, Ubiquitin-Protein Ligases, alpha-Synuclein, tau Proteins (genetics).
- MESH :
- chemical , genetics : Ligases, Nerve Tissue Proteins, Thiolester Hydrolases, tau Proteins.
- geographic : France, Synucleins, Ubiquitin Thiolesterase, Ubiquitin-Protein Ligases, alpha-Synuclein.
- diagnosis : Parkinson Disease.
- genetics : Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 4, Chromosomes, Human, Pair 6, Parkinson Disease.
- Adult, Age of Onset, Aged, Cluster Analysis, Female, Genetic Linkage, Haplotypes, Humans, Male, Middle Aged, Mutation, Pedigree, Sex Distribution.
Abstract
We analyzed the segregation of genetic markers spanning chromosomal regions 2p13, 4p14-15, 4q21-23, 6q25-27, and 17q21 in nine French families affected by autosomal-dominant probable Parkinson's disease. These regions have been linked or associated with familial Parkinson's disease. Multipoint linkage and haplotype analyses excluded 2p13 and 4p14-15 loci in five of nine families. For three families, which were equivocal for two-point linkage at D4S405, the ubiquitin carboxy-terminal hydrolase gene (UCH-L1) was sequenced. In one family, a novel UCH-L1 M124L mutation that did not segregate with early-onset disease was identified. This suggests that rare variants in this gene may not be pathogenic. In seven of nine families, it could be inferred that affected individuals did not share 4q21-23 (alpha-synuclein) haplotypes. All families were unequivocally excluded by haplotype analysis from the parkin locus on 6q25-27. Finally, the 17q21 region was excluded in four of nine families, and no mutation in the tau gene was identified in the five remaining families. Findings from this study confirm genetic heterogeneity within familial parkinsonism.
PubMed: 11104189
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pubmed:11104189Le document en format XML
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<author><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M" last="Farrer">M. Farrer</name>
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<author><name sortKey="Destee, T" sort="Destee, T" uniqKey="Destee T" first="T" last="Destée">T. Destée</name>
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<author><name sortKey="Becquet, E" sort="Becquet, E" uniqKey="Becquet E" first="E" last="Becquet">E. Becquet</name>
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<author><name sortKey="Wavrant De Vrieze, F" sort="Wavrant De Vrieze, F" uniqKey="Wavrant De Vrieze F" first="F" last="Wavrant-De Vrièze">F. Wavrant-De Vrièze</name>
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<author><name sortKey="Mouroux, V" sort="Mouroux, V" uniqKey="Mouroux V" first="V" last="Mouroux">V. Mouroux</name>
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<author><name sortKey="Lincoln, S" sort="Lincoln, S" uniqKey="Lincoln S" first="S" last="Lincoln">S. Lincoln</name>
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<author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name>
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<author><name sortKey="Amouyel, P" sort="Amouyel, P" uniqKey="Amouyel P" first="P" last="Amouyel">P. Amouyel</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Linkage exclusion in French families with probable Parkinson' s disease.</title>
<author><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M" last="Farrer">M. Farrer</name>
<affiliation wicri:level="2"><nlm:affiliation>Neurogenetics Laboratory, Mayo Clinic Jacksonville, Florida, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Neurogenetics Laboratory, Mayo Clinic Jacksonville, Florida</wicri:regionArea>
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<author><name sortKey="Destee, T" sort="Destee, T" uniqKey="Destee T" first="T" last="Destée">T. Destée</name>
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<author><name sortKey="Becquet, E" sort="Becquet, E" uniqKey="Becquet E" first="E" last="Becquet">E. Becquet</name>
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<author><name sortKey="Wavrant De Vrieze, F" sort="Wavrant De Vrieze, F" uniqKey="Wavrant De Vrieze F" first="F" last="Wavrant-De Vrièze">F. Wavrant-De Vrièze</name>
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<author><name sortKey="Mouroux, V" sort="Mouroux, V" uniqKey="Mouroux V" first="V" last="Mouroux">V. Mouroux</name>
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<author><name sortKey="Richard, F" sort="Richard, F" uniqKey="Richard F" first="F" last="Richard">F. Richard</name>
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<author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name>
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<author><name sortKey="Amouyel, P" sort="Amouyel, P" uniqKey="Amouyel P" first="P" last="Amouyel">P. Amouyel</name>
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<author><name sortKey="Chartier Harlin, M C" sort="Chartier Harlin, M C" uniqKey="Chartier Harlin M" first="M C" last="Chartier-Harlin">M C Chartier-Harlin</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Chromosomes, Human, Pair 17 (genetics)</term>
<term>Chromosomes, Human, Pair 2 (genetics)</term>
<term>Chromosomes, Human, Pair 4 (genetics)</term>
<term>Chromosomes, Human, Pair 6 (genetics)</term>
<term>Cluster Analysis</term>
<term>Female</term>
<term>France</term>
<term>Genetic Linkage</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Ligases (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Pedigree</term>
<term>Sex Distribution</term>
<term>Synucleins</term>
<term>Thiolester Hydrolases (genetics)</term>
<term>Ubiquitin Thiolesterase</term>
<term>Ubiquitin-Protein Ligases</term>
<term>alpha-Synuclein</term>
<term>tau Proteins (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term>
<term>Nerve Tissue Proteins</term>
<term>Thiolester Hydrolases</term>
<term>tau Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term>
<term>Synucleins</term>
<term>Ubiquitin Thiolesterase</term>
<term>Ubiquitin-Protein Ligases</term>
<term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 17</term>
<term>Chromosomes, Human, Pair 2</term>
<term>Chromosomes, Human, Pair 4</term>
<term>Chromosomes, Human, Pair 6</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Cluster Analysis</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Sex Distribution</term>
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<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term>
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<front><div type="abstract" xml:lang="en">We analyzed the segregation of genetic markers spanning chromosomal regions 2p13, 4p14-15, 4q21-23, 6q25-27, and 17q21 in nine French families affected by autosomal-dominant probable Parkinson's disease. These regions have been linked or associated with familial Parkinson's disease. Multipoint linkage and haplotype analyses excluded 2p13 and 4p14-15 loci in five of nine families. For three families, which were equivocal for two-point linkage at D4S405, the ubiquitin carboxy-terminal hydrolase gene (UCH-L1) was sequenced. In one family, a novel UCH-L1 M124L mutation that did not segregate with early-onset disease was identified. This suggests that rare variants in this gene may not be pathogenic. In seven of nine families, it could be inferred that affected individuals did not share 4q21-23 (alpha-synuclein) haplotypes. All families were unequivocally excluded by haplotype analysis from the parkin locus on 6q25-27. Finally, the 17q21 region was excluded in four of nine families, and no mutation in the tau gene was identified in the five remaining families. Findings from this study confirm genetic heterogeneity within familial parkinsonism.</div>
</front>
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