CFTR mutations in three Latin American countries

We analyzed 192 cystic fibrosis (CF) alleles in three Latin American countr ies: Mexico, Colombia, and Venezuela, Mutation screening was performed by p olymerase chain reaction (PCR) and a reverse dot blot detection kit that en ables determination of 16 of the most common CF mutations worldwide. Mutati ons were detected in 47.9% of the screened CF alleles, The most prevalent C F allele was Delta F508 (39.8%). The remaining 16 non-Delta F508 detectable mutations represented 8.3% of the CF alleles, Among them, the G542X, N1303 K, and 3849+10kb C>T were the most common. Although the frequency of Delta F508 described here is lower than that reported for Caucasian populations, including in Spain, it is remarkable that mutation prevalences found in thi s study resemble those observed in Spain. Two of these mutations, G542X and 3849+10kb C>T, that were relevant in this analysis, have a particularly hi gh incidence in Spanish communities. The low frequency of Delta F508 descri bed here may be explained by the Amerindian, Caucasian, and Black admixture that occurred in Latin America after the discovery of the New World, and a lso by the probable occurrence of mutations contributed by the original nat ives, which were undetectable in this analysis. (C) 2000 Wiley-Liss, Inc.