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Carrier detection of Duchenne muscular dystrophy in Colombia families by microsatellite analysis

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dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorSilva C.T.spa
dc.creatorMateus H.spa
dc.date.accessioned2020-05-26T00:04:50Z
dc.date.available2020-05-26T00:04:50Z
dc.date.created2008spa
dc.description.abstractIntroduction: The muscular dystrophies of Duchenne and Becker are X-linked recessive neuromuscular disorders; the carrier testing protocols include mutation detection or linkage analysis. Objective: The aim of this investigation was to use the segregation analysis of STR loci to determine the carrier status in 37 families with DMD/DMB. Methods: From 37 families 174 individuals were studied through segregation of 10 intra and extragenic shorttandem repeats (STR) in the members of the family. Results: The carrier status of 89.2% women of the tested group could be assigned by linkage analysis, 65.7% carriers and 23.5% non-carriers Conclusions: Linkage analysis was proven to be a powerful tool for the carrier detection in DMD/BMD and should be taken into account in genetic counselling practice. © 2008 Corporación Editora Médica del Valle.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issn16579534
dc.identifier.issn01208322
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23724
dc.language.isoengspa
dc.relation.citationEndPage13
dc.relation.citationIssueNo. 2 SUPPL.
dc.relation.citationStartPage7
dc.relation.citationTitleColombia Medica
dc.relation.citationVolumeVol. 39
dc.relation.ispartofColombia Medica, ISSN:16579534, 01208322, Vol.39, No.2 SUPPL. (2008); pp. 7-13spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-52949091465&partnerID=40&md5=00f2dbe2080d27270bb46bee66f7eed0spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordArticlespa
dc.subject.keywordColombiaspa
dc.subject.keywordDuchenne muscular dystrophyspa
dc.subject.keywordFamily studyspa
dc.subject.keywordFemalespa
dc.subject.keywordGene locusspa
dc.subject.keywordGene segregationspa
dc.subject.keywordGenetic counselingspa
dc.subject.keywordGenetic linkagespa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordHeterozygotespa
dc.subject.keywordHumanspa
dc.subject.keywordLinkage analysisspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordMicrosatellite markerspa
dc.subject.keywordShort tandem repeatspa
dc.subject.keywordCarrierspa
dc.subject.keywordColombiaspa
dc.subject.keywordDiagnosticspa
dc.subject.keywordDuchennespa
dc.subject.keywordStrspa
dc.titleCarrier detection of Duchenne muscular dystrophy in Colombia families by microsatellite analysisspa
dc.title.TranslatedTitleDetección de portadoras de distrofia muscular de Duchenne en familias colombianas mediante análisis de microsatélitesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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