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Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

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dc.contributor.author Collaborative Group of the Chilean National Cystic Fibrosis Program
dc.contributor.author Lay-Son, Guillermo
dc.contributor.author Puga, Alonso
dc.contributor.author Astudillo, Pedro
dc.contributor.author Repetto, Gabriela
dc.date.accessioned 2017-05-26T15:56:41Z
dc.date.available 2017-05-26T15:56:41Z
dc.date.issued 2012
dc.identifier.citation J Cyst Fibros. 2011 Jan;10(1):66-70 es_CL
dc.identifier.uri http://dx.doi.org/10.1016/j.jcf.2010.10.002 es_CL
dc.identifier.uri http://hdl.handle.net/11447/1350
dc.description Centro de Genética y Genómica es_CL
dc.description.abstract BACKGROUND: CFTR gene mutations have worldwide differences in prevalence and data on Chilean patients is scarce. METHODS: We studied 36 of the most common CFTR mutations in Chilean patients from the CF National Program [Programa Nacional de Fibrosis Quística (PNFQ)] of the Ministry of Health of Chile. RESULTS: Two hundred and eighty-nine patients were studied. Fourteen different mutations were identified with an overall allele detection rate of 42.0%. Mutations with frequencies greater than 1% were p.F508del (30.3% of alleles), p.R334W (3.3%), p.G542X (2.4%), c.3849+10Kb C>T (1.7%), and p.R553X (1.2%). A north to south geographical gradient was observed in the overall rate of detection. CONCLUSIONS: Southern European CFTR mutations predominate in the Chilean population, but a high percentage of alleles remain unknown. Geographical heterogeneity could be explained in part by admixture. Complementary analyses are necessary to allow for effective genetic counselling and improve cost-effectiveness of screening and diagnostic tests. es_CL
dc.format.extent 5 es_CL
dc.language.iso en_US es_CL
dc.publisher Elsevier es_CL
dc.subject CFTR es_CL
dc.subject Cystic fibrosis es_CL
dc.subject Chile es_CL
dc.subject p.F508del es_CL
dc.subject Alleles es_CL
dc.title Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations es_CL
dc.type Artículo es_CL


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