Question

Which of the following is the most common CFTR mutation in white populations?

A Arg117His
B Gln1412X
C IVS10 G>A -1
D ΔF508
E 2 BP Ins, 1154TC

Answer 1

The most common CFTR mutation in white populations is ΔF508, and it leads to thick, sticky mucus in the lungs due to impaired chloride ion transport.

Step-by-step explanation:

The most common CFTR mutation in white populations is ΔF508. This mutation deletes three nucleotides from the CFTR gene, which leads to the removal of phenylalanine at position 508 in the CFTR protein. Because CFTR is crucial for transporting chloride ions through the cell membrane, this mutation can result in thick, sticky mucus accumulation in various organs, most notably the lungs. In the lungs of patients with this mutation, one is likely to observe impaired mucus clearance, leading to chronic infections and lung damage due to the malfunctioning CFTR channel.