What type of mutation results in cystic fibrosis?

Answer 1

Cystic fibrosis is primarily caused by a specific type of mutation in the CFTR gene, which codes for the cystic fibrosis transmembrane conductance regulator protein. The most common mutation associated with cystic fibrosis is a deletion of three nucleotides that leads to the loss of the amino acid phenylalanine at position 508 (known as ΔF508). This is classified as a frameshift mutation, which disrupts the normal function of the CFTR protein, leading to the symptoms associated with the disease. Other mutations in the CFTR gene can also cause cystic fibrosis, but ΔF508 is the most prevalent one.