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PCR-heteroduplex by grouping: Rapid screening carrier method for cystic fibrosis F508del mutation in Colombia

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dc.creatorJay L.M.spa
dc.creatorMateus H.spa
dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorKeyeux G.spa
dc.date.accessioned2020-05-26T00:04:44Z
dc.date.available2020-05-26T00:04:44Z
dc.date.created2006spa
dc.description.abstractBackground: Cystic fibrosis (CF) is the most frequent autosomal recessive disorder in the Caucasian population with an incidence of 1 in 2,500 newborns. More than 1,300 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that causes CF have been described. However, mutation F508del is the most common mutation in different populations around the world. Objective: To develop a fast, reliable and low-cost technique to screen carriers and affected individuals for the F508del mutation. This kind of analysis will have an impact on genetic counselling to decrease the incidence of new cases, in the early diagnosis and instauration of appropriate treatment to decrease morbidity and mortality associated to CF in Colombia. Methods: The reliability of the PCR-heteroduplex by grouping technique by analysis of 400 blood spot samples from asymptomatic CF patients was defined. Results: Using PCR-heteroduplex by grouping technique 100% efficiency, reproducibility and specificity and 92%sensitivity were found. Conclusions: The sensitivity and reproducibility of the PCR-heteroduplex by grouping technique up to pooling of 10 samples were demonstrated. This kind of analysis could be used in heterozygotes and affected screening programs. © 2006 Corporación Editora Médica del Valle.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issn16579534
dc.identifier.issn01208322
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23713
dc.language.isoengspa
dc.relation.citationEndPage182
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage176
dc.relation.citationTitleColombia Medica
dc.relation.citationVolumeVol. 37
dc.relation.ispartofColombia Medica, ISSN:16579534, 01208322, Vol.37, No.3 (2006); pp. 176-182spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-33748667315&partnerID=40&md5=76621b702bca8bfbd0cabb90b3799429spa
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.keywordTransmembrane conductance regulatorspa
dc.subject.keywordArticlespa
dc.subject.keywordBlood samplingspa
dc.subject.keywordColombiaspa
dc.subject.keywordControlled studyspa
dc.subject.keywordCost effectiveness analysisspa
dc.subject.keywordCystic fibrosisspa
dc.subject.keywordDiagnostic accuracyspa
dc.subject.keywordDiagnostic valuespa
dc.subject.keywordDisease associationspa
dc.subject.keywordDisease carrierspa
dc.subject.keywordEarly diagnosisspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic counselingspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordHeteroduplex analysisspa
dc.subject.keywordHeterozygotespa
dc.subject.keywordHumanspa
dc.subject.keywordIncidencespa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMorbidityspa
dc.subject.keywordMortalityspa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordReliabilityspa
dc.subject.keywordReproducibilityspa
dc.subject.keywordRisk reductionspa
dc.subject.keywordScreening testspa
dc.subject.keywordSensitivity and specificityspa
dc.subject.keywordCftrspa
dc.subject.keywordColombiaspa
dc.subject.keywordCystic fibrosisspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordHeteroduplex analysisspa
dc.titlePCR-heteroduplex by grouping: Rapid screening carrier method for cystic fibrosis F508del mutation in Colombiaspa
dc.title.TranslatedTitlePCR-heterodúplex por agrupamiento: Implementación de un método de identificación de portadores de la mutación más común causal de fibrosis quística en Colombiaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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