Artículos de revistas
Prevalence Of δf508 Mutation In The Cystic Fibrosis Transmembrane Conductance Regulator Gene Among Cystic Fibrosis Patients From A Brazilian Referral Center [prevalência Da Mutação δf508 No Gene Cystic Fibrosis Transmembrane Conductance Regulator Em Pacientes Com Fibrose Cística Em Um Centro De Referência No Brasil]
Registro en:
Jornal De Pediatria. , v. 88, n. 6, p. 531 - 534, 2012.
217557
10.2223/JPED.2225
2-s2.0-84875265960
Autor
Bieger A.M.
De Lima Marson F.A.
Bertuzzo C.S.
Institución
Resumen
Objective: To verify the presence of δF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among patients with cystic fibrosis diagnosed by the sweat test for sodium and chlorine and followed at the Pediatric Pneumology Outpatient Clinic of Universidade Estadual de Campinas, Brazil, a referral center for the treatment of cystic fibrosis. Methods: The study analyzed 167 DNA samples from cystic fibrosis patients. Patients' genotype was determined by polymerase chain reaction, and allele and genotype frequencies of δF508 mutation were calculated. Results: The genotype frequencies found for -/-, δF508/-, and δF508/δF508 genotypes were respectively: 43.7% (73 patients), 32.9% (55 patients), and 23.4% (39 patients). Of the 334 alleles analyzed, we observed a frequency of 201 (60.18%) alleles for the absence of δF508 mutation and of 133 (39.82%) for the presence of δF508 mutation. Hardy-Weinberg equilibrium was calculated, obtaining a chi-square value = 16.34 (p ≤ 0.001). The study population was out of equilibrium. The expected values for -/-, δF508/-, and δF508/δF508 genotypes were respectively: 32.22% (60.48 patients), 47.93% (80.04 patients), and 15.86% (26.48 patients). Conclusions: In the analyzed population, δF508 mutation was less prevalent than the allele without this mutation. The frequency observed in this study was similar to that from other areas in Brazil and in the world, mainly due to the predominantly Caucasian origin of the population included in the study. Copyright © 2012 by Sociedade Brasileira de Pediatria. 88 6 531 534 Okay, T.S., Oliveira, W.P., Raiz-Júnior, R., Rodrigues, J.C., Del Negro, G.M., Frequency of the deltaF508 mutation in 108 cystic fibrosis patients in Sao Paulo: Comparison with reported Brazilian data (2005) Clinics (Sao Paulo), 60, pp. 131-134 Riordan, J.R., Rommens, J.M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA (1989) Science, 245, pp. 1066-1073 Rommens, J.M., Iannuzzi, M.C., Kerem, B., Drumm, M.L., Melmer, G., Dean, M., Identification of the cystic fibrosis gene: Chromosome walking and jumping (1989) Science, 245, pp. 1059-1065 Kerem, B., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Identification of the cystic fibrosis gene: Genetic analysis (1989) Science, 245, pp. 1073-1080 (2011) Cystic Fibrosis Mutation Database, , www.genet.sickkids.on.ca/cftr/, online). Acesso: 20/11/ Ko, Y.H., Thomas, P.J., Delannoy, M.R., Pedersen, P.L., The cystic fibrosis transmembrane conductance regulator. Overexpression, purification, and characterization of wild type and delta F508 mutant forms of the first nucleotide binding fold in fusion with the maltose-binding protein (1993) J Biol Chem, 268, pp. 24330-24338 Alvarez, A.E., Ribeiro, A.F., Hessel, G., Bertuzzo, C.S., Ribeiro, J.D., Fibrose cística em um centro de referência no Brasil: Características clínicas e laboratoriais de 104 pacientes e sua associação com o genótipo e a gravidade da doença (2004) J Pediatr (Rio J), 80, pp. 371-379 Mickle, J.E., Cutting, G.R., Genotype-phenotype relationships in cystic fibrosis (2000) Med Clin North Am, 84, pp. 597-607 Bernardino, A.L., Ferri, A., Passos-Bueno, M.R., Kim, C.E., Nakaie, C.M., Gomes, C.E., Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations (2000) Genet Test, 4, pp. 69-74 (2011) Statistical Package for Social Science (SPSS), , SPSS 17.0 for Windows (computer program). Release Version 17.0.1. Chicago, IL: SPSS Incorporation Martins, C.S., Ribeiro, F., Costa, F.F., Frequency of the cystic fibrosis delta F 508 mutation in a population from São Paulo State, Brazil (1993) Braz J Med Biol Res, 26, pp. 1037-1040 Vidigal, P.V., Reis, F.J., Boson, W.L., De Marco, L.A., Brasileiro-Filho, G., P.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil (2008) Braz J Med Biol Res., 41, pp. 643-647 Oliveira, Y.A., (2008) Fibrose Quística [Dissertação], , Covilhã, Portugal: Universidade da Beira Interior;