Refinement of the DYT15 locus in myoclonus dystonia.
Identifieur interne : 002852 ( PubMed/Curation ); précédent : 002851; suivant : 002853Refinement of the DYT15 locus in myoclonus dystonia.
Auteurs : Fabin Han [Canada] ; Lemuel Racacho ; Anthony E. Lang ; Dennis E. Bulman ; David A. GrimesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
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Abstract
Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome18p11 (OMIM number: 607488). Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine-mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations..
DOI: 10.1002/mds.21400
PubMed: 17274032
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Lang</name></author><author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name></author><author><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A" last="Grimes">David A. 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Lang</name></author><author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name></author><author><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A" last="Grimes">David A. 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Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine-mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations..</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17274032</PMID><DateCreated><Year>2007</Year><Month>05</Month><Day>01</Day></DateCreated><DateCompleted><Year>2007</Year><Month>07</Month><Day>12</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>6</Issue><PubDate><Year>2007</Year><Month>Apr</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Refinement of the DYT15 locus in myoclonus dystonia.</ArticleTitle><Pagination><MedlinePgn>888-92</MedlinePgn></Pagination><Abstract><AbstractText>Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome18p11 (OMIM number: 607488). Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine-mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations..</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Han</LastName><ForeName>Fabin</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Racacho</LastName><ForeName>Lemuel</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Lang</LastName><ForeName>Anthony E</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Bulman</LastName><ForeName>Dennis E</ForeName><Initials>DE</Initials></Author><Author ValidYN="Y"><LastName>Grimes</LastName><ForeName>David A</ForeName><Initials>DA</Initials></Author></AuthorList><Language>eng</Language><DataBankList CompleteYN="Y"><DataBank><DataBankName>OMIM</DataBankName><AccessionNumberList><AccessionNumber>607488</AccessionNumber></AccessionNumberList></DataBank></DataBankList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002874">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002887">Chromosomes, Human, Pair 18</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002897">Chromosomes, Human, Pair 7</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>2</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>7</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>2</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21400</ArticleId><ArticleId IdType="pubmed">17274032</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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