ANALYSIS OF 16 CYSTIC-FIBROSIS MUTATIONS IN MEXICAN PATIENTS

We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was pe rformed in two PCR steps: a preliminary one to identify mutation Delta F508, the most frequent cause of cystic fibrosis worldwide, and the s econd a reverse dot-blot with allele-specific oligonucleotide probes t o detect 15 additional common mutations in the Caucasian population. A frequency of 45% for Delta F508 was found, making it the most common in our sample of Mexican patients. Another five mutations (G542X, 3849 + 10 kb C-->T, N1303K, S549N, and 621 + 1 G-->T) were detected, and t hese accounted for 11.25%. The remaining mutations (43.75%) were undet ectable with the methodology used. (C) 1997 Wiley-Liss, Inc.