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.
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.
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Transcribed Image Text: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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