To the best of our knowledge, this is the first research at molecular level in Ecuador which analyzes the 27 exons of the CFTR gene (OMIM: 602421) to determine the prevalence of CFTR gene (OMIM: 602421) mutations in this population; therefore, it is an important contribution for the diagnosis of cystic fibrosis in our country. Here, CFTR is linked to cystic fibrosis.