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Cystic fibrosis (CF) is caused by recessive loss-of-function mutations for a cell surface protein expressed in...

  1. Cystic fibrosis (CF) is caused by recessive loss-of-function mutations for a cell surface protein expressed in the mucus membranes of intestines and lungs. Until recently, few affected individuals survived to reproductive age. In Caucasian populations, CF affects 1 infant in 2,500 births. What is the frequency of CF homozygotes?
  2. Based on the genotype frequency, what is the frequency of the CF allele?
  3. Given a selection coefficient of 1, what would be the mutation rate needed to keep CF in the population at its current allele frequency?
  4. The estimated mutation rate of CF is 6.7 x 10-7. What does this suggest about the likelihood of CF being maintained by mutation-selection balance?
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