Cystic fibrosis is caused by mutations in which gene?

A) BRCA1

B) CFTR gene encoding a chloride channel, most commonly the delta-F508 deletion

C) p53

D) RB1

Explanation

CF: autosomal recessive, CFTR gene (chromosome 7). ΔF508 most common mutation (70%). Defective Cl⁻ channel → thick mucus → pulmonary infections, pancreatic insufficiency, meconium ileus, infertility.

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