Human Heredity: Principles and Issues (MindTap Course List)
Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 11, Problem 3QP

Why is it almost impossible to directly measure the mutation rates in autosomal recessive alleles?

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Until very recently, the fitness of an individual getting familial retinoblastoma was zero, and if the frequency of babies with the inherited disease is 1/20000, what is the best estimate of the mutation rate of the wild type allele to the non-functional form?
Achondroplasia is a form of dwarfism that is inherited in humans as an autosomal dominant disorder. A survey in a small country showed that, within a two-year period, there were 24 children with normal parents born with this disorder out of a total of 16,789 births. What is the mutation rate in mutations/locus/generation? answer to the nearest 0.0001.
Why are the concepts of variable expressivity, incomplete penetrance, and delayed age of onset so important in relation to genetic diseases?
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY