Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199901
Type: Artigo de periódico
Title: Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations And Glutathione S-transferase Null Genotypes In Cystic Fibrosis Patients In Brazil.
Author: Lima, Carmen Silvia Passos
Ortega, Manoela Marques
Marson, Fernando Augusto Lima
Zulli, Roberto
Ribeiro, Antônio Fernando
Bertuzzo, Carmen Silvia
Abstract: To 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.
Subject: Brazil
Chi-square Distribution
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Gene Deletion
Genotype
Glutathione Transferase
Humans
Infant
Logistic Models
Male
Mutation
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/22407040
Date Issue: -1-Uns- -1
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File Description SizeFormat 
pmed_22407040por.pdf464.87 kBAdobe PDFView/Open
pmed_22407040eng.pdf496.82 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.