Overview of common CFTR mutations2 of 2
In spite of the fact that over 1900 CFTR mutations have been described so far, fewer than 20 mutations occur at a frequency greater than 0.1%,1 and only five mutations at a frequency more than 1%. The most common of these is mutation F508del (or ΔF508), which accounts for approximately 70% of CFTR genes in patients with CF worldwide.2
The most common CFTR mutations are:3, 4, 5
What do you think?
Why do you think that the carrier frequency of CF alleles is so high in Caucasian populations?
A: Due to specific patterns of ethnic migration throughout Europe in the middle ages.
B: It is thought that carrier mutations may confer resistance to infectious disease.
C: Currently, there is no theory that explains this phenomenon.