Abstract
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion
cystic fibrosis; PCR; [Delta]F508; diagnosis
Use of PCR for the determination of the frequency of the ΔF508 mutation in Brasilian cistic fibrosis patients
Antonio B. de Miranda1
Juan LLerena Junior1
Ludma T. Dallalana2
Rodrigo S. Moura-Neto3
Philip N. Suffys1
Wim M. Degrave1
Instituto Oswaldo Cruz, Departamento de Bioquímica e Biologia Molecular, Rio de Janeiro, Brasil
Rundação Oswaldo Cruz, Instituto Fernandes Figueira, Brasil
Universidade Federal do Rio de Janeiro, Instituto de Biologia, Departamento de Genética, Brasil
The ΔF508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion
Full text available only in PDF format.
Texto completo disponível apenas em PDF.
Publication Dates
-
Publication in this collection
02 June 2009 -
Date of issue
June 1993