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?

Answer 1

the mutation rate of the achondroplasia gene in this population is 8.50 × 10⁻⁵

It is Given that Achondroplasia is an autosomal dominant disorder,

The total births = 94075,

Dwarfism achondroplasia affects ten infants.

The parents of two infants are also dwarfs. As a result, they passed on this condition to them.

Dwarfism caused by achondroplasia is an autosomal dominant condition. Therefore, those who inherit them from their parents must also have dwarf parents; those who do not have dwarf parents are the result of an achondroplasia gene mutation.

Infants having achondroplasia because of mutation = 10 - 2 = 8

8 infants have the achondroplasia gene mutation.

mutation rate = Infants with gene mutation / Total Infants

mutation rate  = 8 / 94075 = 0.0000850 = 8.50 × 10-5

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