Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients

Mem Inst Oswaldo Cruz. 1993 Apr-Jun;88(2):309-12. doi: 10.1590/s0074-02761993000200022.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Brazil
  • Chromosomes, Human, Pair 7
  • Cystic Fibrosis / genetics*
  • Female
  • Gene Frequency*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Polymerase Chain Reaction