🏥 USMLE Exam Prep

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

✓ Correct Answer: Option B

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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