Linkage exclusion in French families with probable Parkinson's disease
Identifieur interne : 002A86 ( PascalFrancis/Corpus ); précédent : 002A85; suivant : 002A87Linkage exclusion in French families with probable Parkinson's disease
Auteurs : Matt Farrer ; Alain Destee ; Estelle Becquet ; Fabienne Wavrant-De Vrieze ; Vincent Mouroux ; Florence Richard ; Luc Defebvre ; Sarah Lincoln ; John Hardy ; Philippe Amouyel ; Marie-Christine Chartier-HarlinSource :
- Movement disorders [ 0885-3185 ] ; 2000.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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-LI) was sequenced. In one family, a novel UCH-LI 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 (a-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.
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Format Inist (serveur)
NO : | PASCAL 01-0017636 INIST |
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ET : | Linkage exclusion in French families with probable Parkinson's disease |
AU : | FARRER (Matt); DESTEE (Alain); BECQUET (Estelle); VRIEZE (Fabienne Wavrant-De); MOUROUX (Vincent); RICHARD (Florence); DEFEBVRE (Luc); LINCOLN (Sarah); HARDY (John); AMOUYEL (Philippe); CHARTIER-HARLIN (Marie-Christine) |
AF : | Neurogenetics Laboratory, Mayo Clinic Jacksonville/Jacksonville, Florida/Etats-Unis (1 aut., 4 aut., 8 aut., 9 aut.); Clinique Neurologique, Central and Regional Hospital/Lille/France; INSERM 508, Institut Pasteur de Lille/Lille/France |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 6; Pp. 1075-1083; Bibl. 26 ref. |
LA : | Anglais |
EA : | 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-LI) was sequenced. In one family, a novel UCH-LI 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 (a-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. |
CC : | 002B17G |
FD : | Parkinson maladie; Caractère autosomique; Caractère dominant; Liaison génétique; Français; Mutation; Protéine tau; Haplotype; Etude familiale; Déterminisme génétique; Homme; α-Synucléine; Ubiquitin carboxy-terminal hydrolase |
FG : | Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Maladie héréditaire; Génétique |
ED : | Parkinson disease; Autosomal character; Dominant character; Linkage; French; Mutation; Tau protein; Haplotype; Family study; Genetic determinism; Human |
EG : | Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Genetics |
SD : | Parkinson enfermedad; Carácter autosómico; Carácter dominante; Ligamiento genético; Francés; Mutación; Proteína tau; Haplotipo; Estudio familiar; Determinismo genético; Hombre |
LO : | INIST-20953.354000092814950040 |
ID : | 01-0017636 |
Links to Exploration step
Pascal:01-0017636Le document en format XML
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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-LI) was sequenced. In one family, a novel UCH-LI 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 (a-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>
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<s5>39</s5>
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<s5>39</s5>
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<s5>40</s5>
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<s5>40</s5>
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<s5>40</s5>
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<s5>41</s5>
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<fC07 i1="05" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>41</s5>
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<s5>42</s5>
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<s5>42</s5>
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<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
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<s5>45</s5>
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<fC07 i1="07" i2="X" l="ENG"><s0>Genetics</s0>
<s5>45</s5>
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<server><NO>PASCAL 01-0017636 INIST</NO>
<ET>Linkage exclusion in French families with probable Parkinson's disease</ET>
<AU>FARRER (Matt); DESTEE (Alain); BECQUET (Estelle); VRIEZE (Fabienne Wavrant-De); MOUROUX (Vincent); RICHARD (Florence); DEFEBVRE (Luc); LINCOLN (Sarah); HARDY (John); AMOUYEL (Philippe); CHARTIER-HARLIN (Marie-Christine)</AU>
<AF>Neurogenetics Laboratory, Mayo Clinic Jacksonville/Jacksonville, Florida/Etats-Unis (1 aut., 4 aut., 8 aut., 9 aut.); Clinique Neurologique, Central and Regional Hospital/Lille/France; INSERM 508, Institut Pasteur de Lille/Lille/France</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 6; Pp. 1075-1083; Bibl. 26 ref.</SO>
<LA>Anglais</LA>
<EA>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-LI) was sequenced. In one family, a novel UCH-LI 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 (a-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.</EA>
<CC>002B17G</CC>
<FD>Parkinson maladie; Caractère autosomique; Caractère dominant; Liaison génétique; Français; Mutation; Protéine tau; Haplotype; Etude familiale; Déterminisme génétique; Homme; α-Synucléine; Ubiquitin carboxy-terminal hydrolase</FD>
<FG>Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Maladie héréditaire; Génétique</FG>
<ED>Parkinson disease; Autosomal character; Dominant character; Linkage; French; Mutation; Tau protein; Haplotype; Family study; Genetic determinism; Human</ED>
<EG>Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Genetics</EG>
<SD>Parkinson enfermedad; Carácter autosómico; Carácter dominante; Ligamiento genético; Francés; Mutación; Proteína tau; Haplotipo; Estudio familiar; Determinismo genético; Hombre</SD>
<LO>INIST-20953.354000092814950040</LO>
<ID>01-0017636</ID>
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