Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients

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

ABSTRACT

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

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Publication Dates

• Publication in this collection
  02 June 2009
• Date of issue
  June 1993