Concepts of Genetics (12th Edition)
Concepts of Genetics (12th Edition)
12th Edition
ISBN: 9780134604718
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Darrell Killian
Publisher: PEARSON
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Chapter 15, Problem 1NST

If a point mutation occurs within a human egg cell genome that changes an A to a T, what is the most likely effect of this mutation on the phenotype of an offspring that develops from this mutated egg?

Expert Solution & Answer
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Summary Introduction

To determine: The phenotypic effect of a point mutation in an offspring.

Introduction: A change of one base pair to another in a DNA molecule is called point mutation. A change of one nucleotide of a triplet within a protein-coding portion of a gene results in a new triplet that codes for a different amino acid in the protein product.

Explanation of Solution

The phenotypic effect of any base change is dependent on a number of factors. These factors are as follows:

  • Location of the base pair in coding or noncoding region.
  • Interaction with other base sequences in the genome.
  • Base pair potential in dominance or recessiveness.

If a base change is located in a noncoding region, there may be no influence on the phenotype. Some noncoding region serves regulatory functions. The mutations that influence transcription levels, polyA addition, splicing, and translation can affect phenotype.

If a mutation occurs in a coding region that acts as a full recessive, there should be no influence on the phenotype. If a mutant gene acts as a dominant, then there would be an influence on the phenotype.

Conclusion

Thus, the phenotypic effect of point mutation depends on the location of the base pair, interaction with base pair, and potential of base pair.

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Concepts of Genetics (12th Edition)

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY