Question

In a large maternity hospital in Copenhagen, there were 94,075 births. Ten of the infants were achondroplastic dwarfs. Achondroplasia is an autosomal dominant trait show virtually full penetrance. Only two of the afflicted children had a dwarf parent. What is the mutation rate of the achondroplasia gene in this populations?

A)8.50 X 10^-5

B) 4.25 X 10^-5

C)1.06 X 10^-4

D)5.31 X 10^-5

E) 1.81 X 10^-9

Answer 1

Autosomal disorders can be inherited from parents or can cause due to mutations. Here out of 10, only 2 have inherited achondroplasia from parents and rest 8 have mutated gene of achondroplasia.