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Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
ISBN: 9781305251052

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BuyFindarrow_forward

Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
ISBN: 9781305251052
Textbook Problem

Achondroplasia is an autosomal dominant form of dwarfism caused by a single gene mutation. Calculate the mutation rate of this gene given the following data: 10 achondroplastic births to unaffected parents in 245,000 births.

Summary Introduction

To explain: The mutation rate of the gene causing achondroplasia.

Introduction:  Achondroplasia is an autosomal dominant form of dwarfism caused by the mutation in a single gene. People suffering from achondroplasia are of a short height, have short legs and short arms. The mutation rate of achondroplasia is 1×10-5, that means, one mutation per 100,000 copies.

Explanation

Mutation in the gene results in the formation of underdeveloped cartilage, which cannot develop into bone. Mutation rate, in the case of unaffected parents, can be calculated by the following method:

It is given that 10 births are achondroplastic births out of total 245,000 births. 245,000 births have 490,000 copies of the gene because each birth carries two copies of the gene. So, the mutation rate will be:

Number

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