Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.
Identifieur interne : 004A76 ( Ncbi/Checkpoint ); précédent : 004A75; suivant : 004A77Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.
Auteurs : T. Gasser [États-Unis] ; C M Bove ; L J Ozelius ; M. Hallett ; M E Charness ; F H Hochberg ; X O BreakefieldSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1996.
English descriptors
- KwdEn :
- Adult, Aged, Chromosome Aberrations (genetics), Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA Mutational Analysis, Dystonia Musculorum Deformans (genetics), Female, Genes, Dominant, Genetic Markers (genetics), Handwriting, Haplotypes (genetics), Humans, Jews (genetics), Male, Middle Aged, Muscle Cramp (genetics), Music, Occupational Diseases (diagnosis), Occupational Diseases (genetics), Phenotype, Polymorphism, Genetic.
- MESH :
- chemical , genetics : Genetic Markers.
- diagnosis : Occupational Diseases.
- genetics : Chromosome Aberrations, Dystonia Musculorum Deformans, Haplotypes, Jews, Muscle Cramp, Occupational Diseases.
- Adult, Aged, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA Mutational Analysis, Female, Genes, Dominant, Handwriting, Humans, Male, Middle Aged, Music, Phenotype, Polymorphism, Genetic.
Abstract
Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). The founder haplotype associated with > 90% of cases generalized dystonia in the Ashkenazi Jewish population could not be constructed from any of the twenty chromosomes. Potential haplotypes were determined, and no common haplotype was discerned in these patients. These findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group. Further, if the DYT1 gene is involved in these later onset dystonias, there is no evidence for a common mutation in the Ashkenazic Jewish population. It appears that excessive, repetitive use, possibly in combination with ulnar neuropathy, may serve as the inciting cause of some focal dystonias.
DOI: 10.1002/mds.870110208
PubMed: 8684386
Affiliations:
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Gasser</name><affiliation wicri:level="1"><nlm:affiliation>Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129</wicri:regionArea><wicri:noRegion>Charlestown 02129</wicri:noRegion></affiliation></author><author><name sortKey="Bove, C M" sort="Bove, C M" uniqKey="Bove C" first="C M" last="Bove">C M Bove</name></author><author><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L J" last="Ozelius">L J Ozelius</name></author><author><name sortKey="Hallett, M" sort="Hallett, M" uniqKey="Hallett M" first="M" last="Hallett">M. Hallett</name></author><author><name sortKey="Charness, M E" sort="Charness, M E" uniqKey="Charness M" first="M E" last="Charness">M E Charness</name></author><author><name sortKey="Hochberg, F H" sort="Hochberg, F H" uniqKey="Hochberg F" first="F H" last="Hochberg">F H Hochberg</name></author><author><name sortKey="Breakefield, X O" sort="Breakefield, X O" uniqKey="Breakefield X" first="X O" last="Breakefield">X O Breakefield</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1996">1996</date><idno type="RBID">pubmed:8684386</idno><idno type="pmid">8684386</idno><idno type="doi">10.1002/mds.870110208</idno><idno type="wicri:Area/PubMed/Corpus">004859</idno><idno type="wicri:Area/PubMed/Curation">004859</idno><idno type="wicri:Area/PubMed/Checkpoint">004820</idno><idno type="wicri:Area/Ncbi/Merge">004A76</idno><idno type="wicri:Area/Ncbi/Curation">004A76</idno><idno type="wicri:Area/Ncbi/Checkpoint">004A76</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.</title><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name><affiliation wicri:level="1"><nlm:affiliation>Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129</wicri:regionArea><wicri:noRegion>Charlestown 02129</wicri:noRegion></affiliation></author><author><name sortKey="Bove, C M" sort="Bove, C M" uniqKey="Bove C" first="C M" last="Bove">C M Bove</name></author><author><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L J" last="Ozelius">L J Ozelius</name></author><author><name sortKey="Hallett, M" sort="Hallett, M" uniqKey="Hallett M" first="M" last="Hallett">M. Hallett</name></author><author><name sortKey="Charness, M E" sort="Charness, M E" uniqKey="Charness M" first="M E" last="Charness">M E Charness</name></author><author><name sortKey="Hochberg, F H" sort="Hochberg, F H" uniqKey="Hochberg F" first="F H" last="Hochberg">F H Hochberg</name></author><author><name sortKey="Breakefield, X O" sort="Breakefield, X O" uniqKey="Breakefield X" first="X O" last="Breakefield">X O Breakefield</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1996" type="published">1996</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 9</term><term>DNA Mutational Analysis</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Genes, Dominant</term><term>Genetic Markers (genetics)</term><term>Handwriting</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Jews (genetics)</term><term>Male</term><term>Middle Aged</term><term>Muscle Cramp (genetics)</term><term>Music</term><term>Occupational Diseases (diagnosis)</term><term>Occupational Diseases (genetics)</term><term>Phenotype</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Occupational Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Aberrations</term><term>Dystonia Musculorum Deformans</term><term>Haplotypes</term><term>Jews</term><term>Muscle Cramp</term><term>Occupational Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chromosome Disorders</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 9</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genes, Dominant</term><term>Handwriting</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Music</term><term>Phenotype</term><term>Polymorphism, Genetic</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). The founder haplotype associated with > 90% of cases generalized dystonia in the Ashkenazi Jewish population could not be constructed from any of the twenty chromosomes. Potential haplotypes were determined, and no common haplotype was discerned in these patients. These findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group. Further, if the DYT1 gene is involved in these later onset dystonias, there is no evidence for a common mutation in the Ashkenazic Jewish population. It appears that excessive, repetitive use, possibly in combination with ulnar neuropathy, may serve as the inciting cause of some focal dystonias.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Bove, C M" sort="Bove, C M" uniqKey="Bove C" first="C M" last="Bove">C M Bove</name><name sortKey="Breakefield, X O" sort="Breakefield, X O" uniqKey="Breakefield X" first="X O" last="Breakefield">X O Breakefield</name><name sortKey="Charness, M E" sort="Charness, M E" uniqKey="Charness M" first="M E" last="Charness">M E Charness</name><name sortKey="Hallett, M" sort="Hallett, M" uniqKey="Hallett M" first="M" last="Hallett">M. Hallett</name><name sortKey="Hochberg, F H" sort="Hochberg, F H" uniqKey="Hochberg F" first="F H" last="Hochberg">F H Hochberg</name><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L J" last="Ozelius">L J Ozelius</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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