CFTR MUTATIONS IN CHILEAN CYSTIC-FIBROSIS PATIENTS

An analysis of five of the most common cystic fibrosis (CF) mutations worldwide (Delta F-508, R-553X, G-551D, N-1303K and G-542X) was perfor med in 36 Chilean patients. Polymerase chain reaction (PCR) amplificat ion of the DNA followed by allele specific restriction enzyme analysis was used for detection. The overall frequencies of the mutations in t he chromosomes analyzed were 29.2% for Delta F-508 and 4.2% for R-553X (n = 72). The G-542X, G-551D and N-1303 K mutations were absent in th e Chilean sample. Our data suggest however that Delta F-508 is not the most common CF mutation in Chilean patients. Delta F-508 and R-553X a ccount for only 33.4% of the alleles; 66.6% of them do not respond to the probes used and still remain uncharacterized.