Both genetic and nongenetic factors cause the congenital skeletal abnormality known as clubfoot, which occurs with a worldwide incidence of about 1 in 1000 births. Gurnett et al. identified a family in which clubfoot occurred as an autosomal dominant trait due to a mutation in the PITXI gene. DNA testing revealed that 11 people in the family carried the PITXI mutation, but only eight of these people had clubfoot. Calculate the penetrance of the PITXI mutation in this family.

Question

Biology

Bianca Riley

25 February, 18:10

Both genetic and nongenetic factors cause the congenital skeletal abnormality known as clubfoot, which occurs with a worldwide incidence of about 1 in 1000 births. Gurnett et al. identified a family in which clubfoot occurred as an autosomal dominant trait due to a mutation in the PITXI gene. DNA testing revealed that 11 people in the family carried the PITXI mutation, but only eight of these people had clubfoot. Calculate the penetrance of the PITXI mutation in this family.

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Jean Wright · Answer 1

72%.

Explanation:

The clubfoot is the autosomal dominant trait means that the trait has the ability to show its effects in the homozygous dominant and in the heterozygous condition as well.

The clubfoot occur due to the mutation in PITXI gene. Total 11 people has mutation in PITXI gene but only 8 has the ability to show its effect.

The penetrance can be calculated as follows:

= 8 / 11 * 100.

72%.

Thus, the answer is 72%.