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Article: Localization of the gene encoding the α 2/δ-subunits of the L-type voltage dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families

TitleLocalization of the gene encoding the α 2/δ-subunits of the L-type voltage dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
Authors
Issue Date1994
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1994, v. 3 n. 6, p. 969-975 How to Cite?
AbstractMalignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic agents. The demonstration of genetic heterogeneity in MHS prompted the investigation of the roles played by calcium regulatory proteins other than the ryanodine receptor (RYR1), which is known to be linked to MHS in fewer than half of the European MHS families studied to date. Previously, we have excluded the genes encoding the skeletal muscle L-type voltage-dependent calcium channel α 1-, β 1- and γ-subunits as candidates for MHS. In this report, we describe the cloning and partial DNA sequence analysis of the gene encoding the α 2/δ-subunits, CACNL2A, and its localization on the proximal long arm of chromosome 7q. A new dinucleotide repeat marker close to CACNL2A was identified at the D7S849 locus and tested for linkage in six MHS families. D7S849 and flanking genetic markers were found to co-segregate with the MHS locus through 11 meioses in one, three-generation family. These results suggest that mutations in or near CACNL2A may be involved in some forms of this heterogeneous disorder.
Persistent Identifierhttp://hdl.handle.net/10722/44272
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorIles, DEen_HK
dc.contributor.authorLehmannHorn, Fen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorWeghuis, DOen_HK
dc.contributor.authorSuijkerbuijk, RFen_HK
dc.contributor.authorHeytens, Len_HK
dc.contributor.authorMikala, Gen_HK
dc.contributor.authorSchwartz, Aen_HK
dc.contributor.authorEllis, FRen_HK
dc.contributor.authorStewart, ADen_HK
dc.contributor.authorDeufel, Ten_HK
dc.contributor.authorWieringa, Ben_HK
dc.date.accessioned2007-09-12T03:50:22Z-
dc.date.available2007-09-12T03:50:22Z-
dc.date.issued1994en_HK
dc.identifier.citationHuman Molecular Genetics, 1994, v. 3 n. 6, p. 969-975en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44272-
dc.description.abstractMalignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic agents. The demonstration of genetic heterogeneity in MHS prompted the investigation of the roles played by calcium regulatory proteins other than the ryanodine receptor (RYR1), which is known to be linked to MHS in fewer than half of the European MHS families studied to date. Previously, we have excluded the genes encoding the skeletal muscle L-type voltage-dependent calcium channel α 1-, β 1- and γ-subunits as candidates for MHS. In this report, we describe the cloning and partial DNA sequence analysis of the gene encoding the α 2/δ-subunits, CACNL2A, and its localization on the proximal long arm of chromosome 7q. A new dinucleotide repeat marker close to CACNL2A was identified at the D7S849 locus and tested for linkage in six MHS families. D7S849 and flanking genetic markers were found to co-segregate with the MHS locus through 11 meioses in one, three-generation family. These results suggest that mutations in or near CACNL2A may be involved in some forms of this heterogeneous disorder.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshCalcium channels - geneticsen_HK
dc.subject.meshChromosomes, human, pair 7en_HK
dc.subject.meshDna, satellite - geneticsen_HK
dc.subject.meshGenetic predisposition to diseaseen_HK
dc.subject.meshMalignant hyperthermia - geneticsen_HK
dc.titleLocalization of the gene encoding the α 2/δ-subunits of the L-type voltage dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible familiesen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1093/hmg/3.6.969-
dc.identifier.pmid7951247-
dc.identifier.scopuseid_2-s2.0-0028243282en_HK
dc.identifier.volume3en_HK
dc.identifier.issue6en_HK
dc.identifier.spage969en_HK
dc.identifier.epage975en_HK
dc.identifier.isiWOS:A1994NU39000022-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridIles, DE=6701350164en_HK
dc.identifier.scopusauthoridLehmannHorn, F=26642952800en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridWeghuis, DO=35502409400en_HK
dc.identifier.scopusauthoridSuijkerbuijk, RF=7003481966en_HK
dc.identifier.scopusauthoridHeytens, L=7003269137en_HK
dc.identifier.scopusauthoridMikala, G=7004832922en_HK
dc.identifier.scopusauthoridSchwartz, A=7403226256en_HK
dc.identifier.scopusauthoridEllis, FR=7202928602en_HK
dc.identifier.scopusauthoridStewart, AD=55300990300en_HK
dc.identifier.scopusauthoridDeufel, T=16738809000en_HK
dc.identifier.scopusauthoridWieringa, B=7102527003en_HK

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