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CFTR mutations in three Latin American countries

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dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorPineda L.spa
dc.creatorRojas-Martínez A.spa
dc.creatorGutiérrez C.A.spa
dc.creatorMorales A.spa
dc.creatorGómez Y.spa
dc.creatorVillalobos M.C.spa
dc.creatorBorjas L.spa
dc.creatorDelgado W.spa
dc.creatorMyers A.spa
dc.creatorBarrera-Saldaña H.A.spa
dc.date.accessioned2020-06-11T13:22:29Z
dc.date.available2020-06-11T13:22:29Z
dc.date.created2000spa
dc.description.abstractWe analyzed 192 cystic fibrosis (CF) alleles in three Latin American countries: Mexico, Colombia, and Venezuela. Mutation screening was performed by polymerase chain reaction (PCR) and a reverse dot blot detection kit that enables determination of 16 of the most common CF mutations worldwide. Mutations were detected in 47.9% of the screened CF alleles. The most prevalent CF allele was ?F508 (39.6%). The remaining 16 non-?F508 detectable mutations represented 8.3% of the CF alleles. Among them, the G542X, N1303K, and 3849+10kb C > T were the most common. Although the frequency of ?F508 described here is lower than that reported for Caucasian populations, including in Spain, it is remarkable that mutation prevalences found in this study resemble those observed in Spain. Two of these mutations, G542X and 3849+10kb C>T, that were relevant in this analysis, have a particularly high incidence in Spanish communities. The low frequency of ?F508 described here may be explained by the Amerindian, Caucasian, and Black admixture that occurred in Latin America after the discovery of the New World, and also by the probable occurrence of mutations contributed by the original natives, which were undetectable in this analysis. (C) 2000 Wiley- Liss, Inc.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/(SICI)1096-8628(20000410)91:4<277::AID-AJMG7>3.0.CO;2-A
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/25139
dc.language.isoeng
dc.publisherAmerican Journal of Medical Geneticsspa
dc.relation.citationEndPage279
dc.relation.citationIssueNo. 4
dc.relation.citationStartPage277
dc.relation.citationTitleAmerican Journal of Medical Genetics
dc.relation.citationVolumeVol. 91
dc.relation.ispartofAmerican Journal of Medical Genetics, ISSN:, Vol.91, No.4 (2000); pp. 277-279spa
dc.relation.urihttps://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291096-8628%2820000410%2991%3A4%3C277%3A%3AAID-AJMG7%3E3.0.CO%3B2-Aspa
dc.rights.accesRightsinfo:eu-repo/semantics/closedAccess
dc.rights.accesoBloqueado (Texto referencial)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordTransmembrane conductance regulatorspa
dc.subject.keywordArticlespa
dc.subject.keywordColombiaspa
dc.subject.keywordCystic fibrosisspa
dc.subject.keywordDisease associationspa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGene mutationspa
dc.subject.keywordHumanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMexicospa
dc.subject.keywordPriority journalspa
dc.subject.keywordVenezuelaspa
dc.subject.keywordColombiaspa
dc.subject.keywordCystic fibrosisspa
dc.subject.keywordCystic fibrosis transmembrane conductance regulatorspa
dc.subject.keywordGene frequencyspa
dc.subject.keywordHumansspa
dc.subject.keywordMexicospa
dc.subject.keywordMutationspa
dc.subject.keywordPrevalencespa
dc.subject.keywordSpainspa
dc.subject.keywordVenezuelaspa
dc.subject.keywordAllele/mutation frequenciesspa
dc.subject.keywordCystic fibrosisspa
dc.subject.keywordEthnic groupsspa
dc.subject.keywordLatin americaspa
dc.titleCFTR mutations in three Latin American countriesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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