What is the most common CF mutation found in Caucasians of Northern European descent?

The DeltaF508 mutation is recognized as the most prevalent mutation associated with cystic fibrosis (CF), particularly among individuals of Caucasian descent, especially those from Northern Europe. This mutation specifically involves a deletion of three nucleotides that results in the loss of phenylalanine at the 508th position of the cystic fibrosis transmembrane conductance regulator (CFTR) protein.

This mutation is significant because it leads to misfolding of the CFTR protein, causing it to be degraded before it can reach the cell surface. As a result, this impacts chloride channel function, resulting in the characteristic symptoms of cystic fibrosis, such as thick mucus production. The high frequency of the DeltaF508 mutation in the population is attributed to various factors, including genetic drift and the role of the mutation in providing a selective advantage against certain diseases, like typhoid fever.

In contrast, the other mutations listed, although important in the context of cystic fibrosis, occur much less frequently among this specific population. The G542X, R117H, and R553X mutations are associated with cystic fibrosis but do not occur at the same prevalence as the DeltaF508 mutation within Caucasians of Northern European descent. This distinction is essential