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Mutation is one way

by which deleterious alleles can be maintained in a population. When deleterious alleles are introduced into a population at the same rate that they are purged by selection, there is mutation-selection balance. The equation above shows the relationship between the frequency of a recessive allele, its mutation rate and its selection coefficient.


5a. Use the equation to calculate the mutation rate that would be required to maintain the recessive alleles that are responsible for the human diseases spinal muscular atrophy and cystic fribrosis.

5b. Compare your calculated mutation rates with the actual mutation rates of these genes. Is it likely that the deleterious alleles for both diseases are maintained through a continuous influx of deleterious alleles through mutation? If not, provide one other mechanism by which deleterious alleles can be maintained in a population

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equilibrium frequency
mutation rate
selection coefficient
Spinal muscular atrophy
Cystic fibrosis
caused by recessive allele
caused by recessive allele
Actual mutation rate:
Actual mutation rate:
H=1.1 x 10-4
H=6.7 x 10-7

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