Achondroplasia is a rare form of dwarfism. It is caused by an autosomal dominant mutation within a single gene. Among 1,422,000 live births, the number of babies born with achondroplasia was 31. Among those 31 babies, 18 of them had one parent with achondroplasia.
The remaining babies had two unaffected parents. What is the mutation frequency for this disorder among these 1,422,000 babies? What is the mutation rate for achondroplasia?
The mutation frequency is the total number of mutant alleles divided by the total number of alleles in the population. If there are 1,422,000 babies, there are 2,844,000 copies of this gene (because each baby has 2 copies). The mutation frequency is31/2,844,000, which equals 1.09 × 10-5. The mutation rate is the number of new mutations per generation. There are 13 babies who did not have a parent with achondroplasia; thus,thirteen is the number of new mutations. If we calculate the mutation rate as the number of new mutations in a given gene per generation, then we should divide 13 by 2,844,000. In this case, the mutation rate would be 4.6 × 10-6.