University of Colorado Health/Poudre Valley Health Systems keeps records of numb

Question

University of Colorado Health/Poudre Valley Health Systems keeps records of numbers of births for several autosomal dominant diseases. One such autosomal dominant condition results in a liver lysosomal enzyme defect. Out of 147,000 births in Northern Colorado, 15 patients were confirmed L1+ L1-. Four of those had a parent with the disease. What is the apparent mutation rate of the L1 gene in this region, expressed in mutations per gene per gamete?

You an ignore the specificity of the hospital I just need help finding the apparent mutation rate step by step. Thank you so mich in advance!

Explanation / Answer

Out of 15 , there were 4 parents who had the disease. So, 11 out of 147000 had a mutation which led to the disease, that is equal to a mutation rate of 7.5 * 10-5    mutations per individual. Every individual is diploid. Since, the disease is autosomal dominant, even if mutation occurs in one allele, then also disease will occur.

Mutations per gene per gamete = 7.5/2= 3.75 *10-5

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