What can be inferred about the prevalence of the DeltaF508 mutation among CF patients?

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The DeltaF508 mutation is widely recognized as the most common mutation associated with cystic fibrosis (CF). This particular mutation is a deletion of three nucleotides that results in the loss of the phenylalanine amino acid at the 508th position of the CFTR protein. This alteration significantly impacts the function of the CFTR protein, leading to the characteristic symptoms of cystic fibrosis.

Studies show that the DeltaF508 mutation accounts for approximately 70% of CF alleles in many populations, particularly among those of European descent. This high prevalence highlights its importance in both the diagnosis and management of cystic fibrosis, as understanding the prevalence of such mutations aids in genetic counseling and in the development of targeted therapies.

While other mutations exist that can lead to cystic fibrosis, DeltaF508's predominance sets it apart as a focal point in both research and clinical practice related to the disorder. Its significance transcends regional boundaries, making it a global concern rather than one localized to a specific geographic area.

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