Chapter 12, Problem 15P

Summary Introduction

To analyze:

Using the information given in the question, determine the rate of mutation in the gene of population showing $70\%$ penetrance of dominant allele, causing the autosomal dominant disease, polydactyly. The hospital survey shows that $1$ in $40,000$ new born child is affected with polydactyly.

Introduction:

Polydactyl is an autosomal dominant condition due to which the person has one extra figure in a hand or toe. In autosomal dominant condition, the dominant allele carries the diseased trait; therefore, the presence of single dominant allele in the genotype is sufficient to cause the autosomal dominant disease.

Mutation is the condition that causes alteration in the genome. The rate of mutation can be expressed in various ways such as mutation per gene, per locus, or per gamete. In the polydactyly condition, the mutant dominant allele is responsible for the diseased condition.