What is the gene product associated with cystic fibrosis?

• A. Tyrosinase
• B. Cystic fibrosis transmembrane conductance regulator
• C. Phenylalanine hydroxylase
• D. Beta Globin

Answer: (B)

Cystic fibrosis is primarily caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene encodes a protein that functions as a chloride channel located in the cell membranes of epithelial cells. This protein is crucial for maintaining the balance of salt and water on epithelial surfaces, such as in the lungs and pancreas.

When there are mutations in the CFTR gene, the CFTR protein can be misfolded, dysfunctional, or completely absent, leading to the thick mucus characteristic of cystic fibrosis. This thickened mucus can obstruct airways and glands, leading to breathing difficulties and various complications.

The other options pertain to different genes and disorders. Tyrosinase is involved in melanin production and relates to skin pigmentation disorders, while phenylalanine hydroxylase is associated with phenylketonuria, a metabolic disorder. Beta globin is part of hemoglobin and is linked to conditions such as sickle cell disease and beta-thalassemia. Therefore, the gene product associated with cystic fibrosis is indeed the cystic fibrosis transmembrane conductance regulator protein.