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

Show simple item record Collaborative Group of the Chilean National Cystic Fibrosis Program Lay-Son, Guillermo Puga, Alonso Astudillo, Pedro Repetto, Gabriela 2017-05-26T15:56:41Z 2017-05-26T15:56:41Z 2012
dc.identifier.citation J Cyst Fibros. 2011 Jan;10(1):66-70
dc.description Centro de Genética y Genómica
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.
dc.format.extent 5
dc.language.iso en_US
dc.publisher Elsevier
dc.subject CFTR
dc.subject Cystic fibrosis
dc.subject Chile
dc.subject p.F508del
dc.subject Alleles
dc.title Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations
dc.type Artículo

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