Club foot is one of the most common congenital skeletal abnormalities, with a worldwide incidence of about 1 in 1000 births. Both genetic and nongenetic factors are thought to be responsible for club foot. C. A. Gurnett et al. (2008. American Journal of Human Genetics 83:616–622) identified a family in which club foot was inherited as an autosomal dominant trait with incomplete penetrance. They discovered a mutation in the PITXI gene that caused club foot in this family. Through DNA testing, they determined that 11 people in the family carried the PITXI mutation, but only 8 of these people had club foot. What is the penetrance of the PITXI mutation in this family?

Club foot is one of the most common congenital skeletal abnormalities, with a worldwide incidence of about 1 in 1000 births. Both genetic and nongenetic factors are thought to be responsible for club foot. C. A. Gurnett et al. (2008. American Journal of Human Genetics 83:616–622) identified a family in which club foot was inherited as an autosomal dominant trait with incomplete penetrance. They discovered a mutation in the PITXI gene that caused club foot in this family. Through DNA testing, they determined that 11 people in the family carried the PITXI mutation, but only 8 of these people had club foot. What is the penetrance of the PITXI mutation in this family?

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Description: Club foot is one of the most common congenital skeletal abnormalities, with a worldwide incidence of about 1 in 1000 births. Both genetic and nongenetic factors are thought to be responsible for club foot. C. A. Gurnett et al. (2008. American Journal

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
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