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Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia

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dc.creatorMateus H.E.spa
dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorSanchez L.S.spa
dc.creatorPeñaloza I.F.spa
dc.creatorForero D.V.spa
dc.creatorPerdomo P.A.spa
dc.creatorQuiasua D.C.spa
dc.creatorRamírez A.spa
dc.creatorMontoya L.C.spa
dc.creatorPérez L.A.spa
dc.creatorAmado H.P.spa
dc.creatorMolano J.A.spa
dc.creatorAmaya S.A.spa
dc.creatorDuran M.H.spa
dc.creatorCárdenas V.C.spa
dc.creatorGuevara K.spa
dc.creatorParga D.A.spa
dc.creatorEsparrogosa C.L.spa
dc.date.accessioned2020-05-26T00:04:47Z
dc.date.available2020-05-26T00:04:47Z
dc.date.created2007spa
dc.description.abstractIntroduction: Cystic fibrosis (CF) is the most frequent autosomical recessive disorder in Caucasian population with an incidence of in 2000 newborns. The disease is caused by mutations in the cfr gene, but the most common mutation is F508del, which accounts for 66% of CF chromosomes worldwide and a carrier frequency for Caucasian population of 1 in 25. Objective: To determine the carrier frequency of the F508del mutation in 110 unrelated, healthy students from the Facultad de Medicina, Universidad del Rosario. Methods. The presence of F508del mutation using PCR and heteroduplex analysis was determined. Results: Only four heterozygotes for F508del mutation were discovered. This represents a carrier frequency of 1 in 27 students. Conclusions: This estimated frequency of F508del carriers is higher than expected, encouraging further'screening in normal control individuals from different regions of Colombia. © 2007 Corporación Editora Médica del Valle.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issn16579534
dc.identifier.issn01208322
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23718
dc.language.isoengspa
dc.relation.citationEndPage356
dc.relation.citationIssueNo. 4
dc.relation.citationStartPage352
dc.relation.citationTitleColombia Medica
dc.relation.citationVolumeVol. 38
dc.relation.ispartofColombia Medica, ISSN:16579534, 01208322, Vol.38, No.4 (2007); pp. 352-356spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-38349081698&partnerID=40&md5=3eea3d1624a1870ad33780b223556e42spa
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.keywordPhenylalaninespa
dc.subject.keywordTransmembrane conductance regulatorspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordColombiaspa
dc.subject.keywordControlled studyspa
dc.subject.keywordCystic fibrosisspa
dc.subject.keywordFemalespa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordHeteroduplex analysisspa
dc.subject.keywordHeterozygote detectionspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman experimentspa
dc.subject.keywordMalespa
dc.subject.keywordMedical studentspa
dc.subject.keywordNormal humanspa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordCarrierspa
dc.subject.keywordColombiaspa
dc.subject.keywordCystic fibrosisspa
dc.subject.keywordDeltaf508spa
dc.titleCarrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombiaspa
dc.title.TranslatedTitleFrecuencia de la mutación F508del en estudiantes de la Facultad de Medicina de la Universidad del Rosario, Bogotá, Colombiaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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