Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients.
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.
de Miranda
A B
AB
Instituto Oswaldo Cruz, Departamento de Bioquímica e Biologia Molecular, Rio de Janeiro, Brasil.
Llerena Júnior
J
J
Dallalana
L T
LT
Moura-Neto
R S
RS
Suffys
P N
PN
Degrave
W M
WM
D001483:Base Sequence; D001938:Brazil; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction