Genetics and Molecular Biology
Print version ISSN 1415-4757
On-line version ISSN 1678-4685
PEREIRA, Lilian et al. Cystic fibrosis mutations R1162X and 2183AA®G in two southern Brasilian states. Genet. Mol. Biol. [online]. 1999, vol.22, n.3, pp.291-294. ISSN 1415-4757. http://dx.doi.org/10.1590/S1415-47571999000300002.
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 Paraná (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 DF508, 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 DF508 alleles and one 2183AA®G allele. DF508, 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.