Article
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients
Registro en:
MIRANDA, Antonio B. de et al. Use of PCR for the determination of the frequency of the ΔF508 mutation in Brasilian cistic fibrosis patients. Memórias do Instituto Oswaldo Cruz, Rio de Janeiro, v. 88, n. 2, p. 309-312, Apr./June 1993.
0074-0276
10.1590/s0074-02761993000200022
Autor
Miranda, Antonio B. de
Llerena Junior, Juan Clinton
Dallalana, Ludma T.
Moura Neto, Rodrigo S.
Suffys, Philip N.
Degrave, Wim M.
Resumen
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.