Abstract:

Fifteen years ago the gene responsible for cystic fibrosis (CF), the most common severe autosomal recessive disorder among Caucasians, was identified. In this chapter we describe the cloning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the spectrum of the CFTR mutations and classification of the mutations by their mechanisms of CFTR dysfunction. Last but not least, we summarize the contribution of all these data to the development of mutation-specific therapy.