Cystic fibrosis mutations R1162X and 2183AA→G in two southern Brazilian states

Abstract

We screened 79 southern Brazilian patients with cystic fibrosis for the rare cystic fibrosis mutations R1162X and 2183AA→G. Forty-nine patients were born in the State of Parana (PR) and 30 in the State of Santa Catarina (SC). Two 2183AA→G alleles were found among the SC patients and one among the PR patients. Six R1162X alleles were found among the SC patients and one among the PR patients. Fourteen percent of the alleles found among patients of Italian origin were R1162X, and 7% were 2183AA→G mutations. These mutations, together with ΔF508, were also studied in a sample of 270 normal non-related subjects of Italian origin who have been born in PR. In this sample we found two ΔF508 alleles and one 2183AA→G allele. ΔF508, R1162X and 2183AA→G frequencies were not statistically different from those observed in Italy. Our results demonstrate that it is important to include these mutations in southern Brazilian surveys of cystic fibrosis patients, especially when they are of Italian descent.