Linkage analysis with chromosome 9 markers in hereditary essential tremor
Identifieur interne : 009013 ( Main/Merge ); précédent : 009012; suivant : 009014Linkage analysis with chromosome 9 markers in hereditary essential tremor
Auteurs : D. Conway [Royaume-Uni] ; P. G. Bain [Royaume-Uni] ; T. T. Warner [Royaume-Uni] ; M. B. Davis [Royaume-Uni] ; L. J. Findley [Royaume-Uni] ; P. D. Thompson [Royaume-Uni] ; C. D. Marsden [Royaume-Uni] ; Harding [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1993.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Alleles, Argininosuccinate Synthase (analysis), Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 9, DNA (blood), Dystonia Musculorum Deformans (genetics), Essential tremor, Family, Female, Genetic Testing, Humans, Linkage, Lod Score, Male, Middle Aged, Pedigree, Recombination, Genetic, Torsion dystonia, Tremor (diagnosis), Tremor (genetics), Videotape Recording.
- MESH :
- chemical , analysis : Argininosuccinate Synthase.
- chemical , blood : DNA.
- diagnosis : Tremor.
- genetics : Dystonia Musculorum Deformans, Tremor.
- Adolescent, Adult, Aged, Alleles, Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 9, Family, Female, Genetic Testing, Humans, Lod Score, Male, Middle Aged, Pedigree, Recombination, Genetic, Videotape Recording.
Abstract
Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32–34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were − 19.5 for ASS and − 10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.
Url:
DOI: 10.1002/mds.870080324
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003444
- to stream Istex, to step Curation: 003444
- to stream Istex, to step Checkpoint: 004041
- to stream PubMed, to step Corpus: 004C04
- to stream PubMed, to step Curation: 004C04
- to stream PubMed, to step Checkpoint: 004C41
- to stream Ncbi, to step Merge: 004970
- to stream Ncbi, to step Curation: 004970
- to stream Ncbi, to step Checkpoint: 004970
Links to Exploration step
ISTEX:563E98F854A22005C0792272163AC09FF2860C0FLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Linkage analysis with chromosome 9 markers in hereditary essential tremor</title>
<author><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D." last="Conway">D. Conway</name>
</author>
<author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P. G." last="Bain">P. G. Bain</name>
</author>
<author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T. T." last="Warner">T. T. Warner</name>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name>
</author>
<author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L. J." last="Findley">L. J. Findley</name>
</author>
<author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name>
</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name>
</author>
<author><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:563E98F854A22005C0792272163AC09FF2860C0F</idno>
<date when="1993" year="1993">1993</date>
<idno type="doi">10.1002/mds.870080324</idno>
<idno type="url">https://api.istex.fr/document/563E98F854A22005C0792272163AC09FF2860C0F/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003444</idno>
<idno type="wicri:Area/Istex/Curation">003444</idno>
<idno type="wicri:Area/Istex/Checkpoint">004041</idno>
<idno type="wicri:doubleKey">0885-3185:1993:Conway D:linkage:analysis:with</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:8341306</idno>
<idno type="wicri:Area/PubMed/Corpus">004C04</idno>
<idno type="wicri:Area/PubMed/Curation">004C04</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004C41</idno>
<idno type="wicri:Area/Ncbi/Merge">004970</idno>
<idno type="wicri:Area/Ncbi/Curation">004970</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">004970</idno>
<idno type="wicri:doubleKey">0885-3185:1993:Conway D:linkage:analysis:with</idno>
<idno type="wicri:Area/Main/Merge">009013</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Linkage analysis with chromosome 9 markers in hereditary essential tremor</title>
<author><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D." last="Conway">D. Conway</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P. G." last="Bain">P. G. Bain</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T. T." last="Warner">T. T. Warner</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L. J." last="Findley">L. J. Findley</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="1993">1993</date>
<biblScope unit="vol">8</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="374">374</biblScope>
<biblScope unit="page" to="376">376</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">563E98F854A22005C0792272163AC09FF2860C0F</idno>
<idno type="DOI">10.1002/mds.870080324</idno>
<idno type="ArticleID">MDS870080324</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>Argininosuccinate Synthase (analysis)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Disorders</term>
<term>Chromosomes, Human, Pair 9</term>
<term>DNA (blood)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Essential tremor</term>
<term>Family</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Linkage</term>
<term>Lod Score</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Recombination, Genetic</term>
<term>Torsion dystonia</term>
<term>Tremor (diagnosis)</term>
<term>Tremor (genetics)</term>
<term>Videotape Recording</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Argininosuccinate Synthase</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Disorders</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Family</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Lod Score</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Recombination, Genetic</term>
<term>Videotape Recording</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="fr">Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32–34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were − 19.5 for ASS and − 10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.</div>
</front>
</TEI>
<double doi="10.1002/mds.870080324"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Linkage analysis with chromosome 9 markers in hereditary essential tremor</title>
<author><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D." last="Conway">D. Conway</name>
</author>
<author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P. G." last="Bain">P. G. Bain</name>
</author>
<author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T. T." last="Warner">T. T. Warner</name>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name>
</author>
<author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L. J." last="Findley">L. J. Findley</name>
</author>
<author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name>
</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name>
</author>
<author><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:563E98F854A22005C0792272163AC09FF2860C0F</idno>
<date when="1993" year="1993">1993</date>
<idno type="doi">10.1002/mds.870080324</idno>
<idno type="url">https://api.istex.fr/document/563E98F854A22005C0792272163AC09FF2860C0F/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003444</idno>
<idno type="wicri:Area/Istex/Curation">003444</idno>
<idno type="wicri:Area/Istex/Checkpoint">004041</idno>
<idno type="wicri:doubleKey">0885-3185:1993:Conway D:linkage:analysis:with</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Linkage analysis with chromosome 9 markers in hereditary essential tremor</title>
<author><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D." last="Conway">D. Conway</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P. G." last="Bain">P. G. Bain</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T. T." last="Warner">T. T. Warner</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L. J." last="Findley">L. J. Findley</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name>
<affiliation wicri:level="2"><country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="1993">1993</date>
<biblScope unit="vol">8</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="374">374</biblScope>
<biblScope unit="page" to="376">376</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">563E98F854A22005C0792272163AC09FF2860C0F</idno>
<idno type="DOI">10.1002/mds.870080324</idno>
<idno type="ArticleID">MDS870080324</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Essential tremor</term>
<term>Linkage</term>
<term>Torsion dystonia</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="fr">Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32–34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were − 19.5 for ASS and − 10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.</div>
</front>
</TEI>
</ISTEX>
<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Linkage analysis with chromosome 9 markers in hereditary essential tremor.</title>
<author><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D" last="Conway">D. Conway</name>
<affiliation wicri:level="2"><nlm:affiliation>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London, England.</nlm:affiliation>
<country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P G" last="Bain">P G Bain</name>
</author>
<author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T T" last="Warner">T T Warner</name>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name>
</author>
<author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L J" last="Findley">L J Findley</name>
</author>
<author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P D" last="Thompson">P D Thompson</name>
</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name>
</author>
<author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="1993">1993</date>
<idno type="RBID">pubmed:8341306</idno>
<idno type="pmid">8341306</idno>
<idno type="doi">10.1002/mds.870080324</idno>
<idno type="wicri:Area/PubMed/Corpus">004C04</idno>
<idno type="wicri:Area/PubMed/Curation">004C04</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004C41</idno>
<idno type="wicri:Area/Ncbi/Merge">004970</idno>
<idno type="wicri:Area/Ncbi/Curation">004970</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">004970</idno>
<idno type="wicri:doubleKey">0885-3185:1993:Conway D:linkage:analysis:with</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Linkage analysis with chromosome 9 markers in hereditary essential tremor.</title>
<author><name sortKey="Conway, D" sort="Conway, D" uniqKey="Conway D" first="D" last="Conway">D. Conway</name>
<affiliation wicri:level="2"><nlm:affiliation>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London, England.</nlm:affiliation>
<country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bain, P G" sort="Bain, P G" uniqKey="Bain P" first="P G" last="Bain">P G Bain</name>
</author>
<author><name sortKey="Warner, T T" sort="Warner, T T" uniqKey="Warner T" first="T T" last="Warner">T T Warner</name>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name>
</author>
<author><name sortKey="Findley, L J" sort="Findley, L J" uniqKey="Findley L" first="L J" last="Findley">L J Findley</name>
</author>
<author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P D" last="Thompson">P D Thompson</name>
</author>
<author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name>
</author>
<author><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A E" last="Harding">A E Harding</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="1993" type="published">1993</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>Argininosuccinate Synthase (analysis)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Disorders</term>
<term>Chromosomes, Human, Pair 9</term>
<term>DNA (blood)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Family</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Lod Score</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Recombination, Genetic</term>
<term>Tremor (diagnosis)</term>
<term>Tremor (genetics)</term>
<term>Videotape Recording</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Argininosuccinate Synthase</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Disorders</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Family</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Lod Score</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Recombination, Genetic</term>
<term>Videotape Recording</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were -19.5 for ASS and -10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.</div>
</front>
</TEI>
</PubMed>
</double>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009013 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 009013 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Merge |type= RBID |clé= ISTEX:563E98F854A22005C0792272163AC09FF2860C0F |texte= Linkage analysis with chromosome 9 markers in hereditary essential tremor }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |