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dc.typeArtigo de periódicopt_BR
dc.titleCystic Fibrosis Transmembrane Conductance Regulator Gene Mutations And Glutathione S-transferase Null Genotypes In Cystic Fibrosis Patients In Brazil.pt_BR
dc.contributor.authorLima, Carmen Silvia Passospt_BR
dc.contributor.authorOrtega, Manoela Marquespt_BR
dc.contributor.authorMarson, Fernando Augusto Limapt_BR
dc.contributor.authorZulli, Robertopt_BR
dc.contributor.authorRibeiro, Antônio Fernandopt_BR
dc.contributor.authorBertuzzo, Carmen Silviapt_BR
unicamp.authorCarmen Silvia Passos Lima, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil. carmenl@fcm.unicamp.brpt_BR Marques Ortega,pt Augusto Lima Marson,pt Zulli,ptônio Fernando Ribeiro,pt Silvia Bertuzzo,pt
dc.subjectChi-square Distributionpt_BR
dc.subjectChild, Preschoolpt_BR
dc.subjectCystic Fibrosispt_BR
dc.subjectCystic Fibrosis Transmembrane Conductance Regulatorpt_BR
dc.subjectGene Deletionpt_BR
dc.subjectGlutathione Transferasept_BR
dc.subjectLogistic Modelspt_BR
dc.description.abstractTo determine the effects that mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and deletion of the glutathione S-transferase (GST) genes mu-1 (GSTM1) and theta-1 (GSTT1) have on the clinical course of cystic fibrosis (CF) in patients residing in the southeastern region of Brazil. The study sample consisted of all consecutive CF patients treated at the Hospital de Clínicas School of Medical Sciences of the State University at Campinas between March of 2002 and March of 2005. We included 66 CF patients. Genomic DNA was analyzed by polymerase chain reaction and restriction endonuclease digestion for the identification of the genotypes. The DF508 mutation of the CFTR gene was found in 44 patients (66.7%). The null genotypes GSTM1, GSTT1 and GSTM1/GSTT1 were found in 40.9%, 15.2%, and 3.0% of the patients, respectively. The DF508 CFTR mutation was more common in patients diagnosed with CF before 2.5 years of age than in those diagnosed later (75.5% vs. 41.2%; p = 0.008). The frequency of the DF508 CFTR mutation, as well as of the GSTM1 and GSTT1 genotypes, was not found to be associated with gender, ethnicity, pulmonary disease status, or pancreatic disease status. When the patients were stratified by clinical and epidemiological features, the frequencies of the GSTM1 and GSTT1 null genotypes were similar, suggesting that the inherited absence of these enzymatic pathways does not alter the course of CF. However, the high frequency of the DF508 CFTR mutation found in younger children suggests that it influences the age at diagnosis of CF in this region of Brazil.en
dc.relation.ispartofJornal Brasileiro De Pneumologia : Publicaça̋o Oficial Da Sociedade Brasileira De Pneumologia E Tisilogiapt_BR
dc.relation.ispartofabbreviationJ Bras Pneumolpt_BR
dc.identifier.citationJornal Brasileiro De Pneumologia : Publicaça̋o Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia. v. 38, n. 1, p. 50-6pt_BR
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