Which cystic fibrosis mutation is still considered common despite its analysis requirements?

The choice of F508del as the common cystic fibrosis mutation is supported by extensive research and clinical observation. F508del is a deletion of phenylalanine at position 508 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is the most prevalent mutation associated with cystic fibrosis. This mutation results in misfolding of the CFTR protein, leading to its degradation before it can reach the cell surface, which disrupts chloride ion transport and causes the symptoms characteristic of cystic fibrosis.

Due to its high frequency within the cystic fibrosis patient population, F508del is routinely screened for in genetic testing. The prevalence of this mutation in various populations helps clinicians and genetic counselors to identify and provide appropriate management for individuals who are carriers or affected by cystic fibrosis. In the context of genetic counseling, understanding the common mutations, particularly F508del, is crucial since this helps inform carrier testing and assists in family planning decisions.

The other mutations listed, while they might be relevant in specific contexts or populations, do not have the same level of prevalence or direct impact on the management of cystic fibrosis as F508del does. Their analysis requirements might hinder their common use in genetic testing, thereby reaffirming the