Cystic fibrosis mutations R1162X and 2183AA®G in two southern Brasilian states

Abstract

We screened 79 southern Brazilian patients with cystic fibrosis for the rare cystic fibrosis mutations R1162X and 2183AA<FONT FACE="Symbol">®</FONT>G. Forty-nine patients were born in the State of Paraná (PR) and 30 in the State of Santa Catarina (SC). Two 2183AA<FONT FACE="Symbol">®</FONT>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<FONT FACE="Symbol">®</FONT>G mutations. These mutations, together with <FONT FACE="Symbol">D</FONT>F508, 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 <FONT FACE="Symbol">D</FONT>F508 alleles and one 2183AA<FONT FACE="Symbol">®</FONT>G allele. <FONT FACE="Symbol">D</FONT>F508, R1162X and 2183AA<FONT FACE="Symbol">®</FONT>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.