Frequency of F508del Variant in Patients with Cystic Fibrosis from Paraguay

Cystic fibrosis (CF) is an autosomal recessive disorder and caused by variants in the Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We aimed to study frequency of F508del variant, most common variant worldwide, patients with CF from Paraguay. The Paraguayan a clinical diagnosis was assessed using polymerase chain reaction followed sequencing PCR products. 43 86 (50%) were homozygous for 28 heterozygous (32.56%), remaining 15 (17.44%) non-carriers. In terms alleles, there 114 mutated (114/172 or 66.28%) 58 did not correspond this (58/172 33.72%). This first information utmost relevance when planning offering treatments health services.