SPECTRUM OF CFTR MUTATIONS IN ARGENTINE CYSTIC-FIBROSIS PATIENTS

The identification of different mutations which cause cystic fibrosis (CF) in Argentine patients has been performed. Initially, 10 of the mo st commonly mutated loci in 228 independent chromosomes were analyzed. Each allele was detected by PCR amplification of DNA samples either d irectly on polyacrylamide gels, by restriction enzyme digestion and ag arose gels electrophoresis, or by hybridization with allele specific o ligonucleotides. The Delta F508 mutation was found in 57% of the allel es. The frequencies of the other CF mutations were as follows: G542X 3 .9%, W1282X 3.1%, N1303K 1.7%, 1717 1-G-->A 0.9%, R553X 0.4%, R1162X 0 .4%, whereas G551D, Delta I507 and S549N were not found. This direct m utation analysis enabled the detection of 155/228 CF alleles (67%). Of the remaining 73 unidentified CF alleles, 22 were investigated for th e 27 exons by DGGE and 9 rare mutations were identified. The incidence of the main CF mutations analyzed was similar to that of the South Eu ropean population and markedly different from other Latin American cou ntries. The mutation data presented here may be useful for designing D NA testing strategies for CF in Argentina.