The Genetics of Cystic Fibrosis

I. The CF Gene Over recent years there has been a dramatic increase in our understanding of the genetics of cystic fibrosis (CF). In 1949, Lowe et al. postulated that CF must be caused by a defect in a single gene on the basis of the autosomal recessive pattern of inheritance of the disease (1). The identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 by Collins et al. (2-4) created new hope for curative treatment. The CFTR gene is localized on the long arm of chromosome 7 (7q21-34), spanning approximately 190 kb of genomic DNA (5). The gene consists of 27 exons and encodes a mature mRNA transcript of 6.5 kb that is translated into a 1480-amino acid protein.