INFOGRAPHIC 11.1 CF IS CAUSED BY MUTATIONS IN THE CFTR GENE"
Cystic fibrosis (CF) is caused by a variety of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene that sits on chromosome 7. One such mutation consists of a deletion of three consecutive nucleotides, which creates a CF-associated mutant allele. Consequently, the mRNA expressed from this allele has a missing codon and the resulting protein lacks an amino acid in a specific location, rendering the protein nonfunctional.