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Mutations and Genetic Changes

Mutations and Genetic Changes

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Mutations and Genetic Change

There are a number of ways that changes can be made to DNA. While this can happen to somatic cells as well as the germ cells - we are more interested in the latter with inheritance. The first slide(s) will give you an overview of all of these; you have studied some in M4 - and some you do not need to know in detail. The focus of this tutorial is going to be on Mutations and Chromosome Rearrangements.

Source: M. O'Mahony, open source figures

Powerpoint for Tutorial

Source: M. O'Mahony, open source figures

Student Notes Template

This contains the outline and figures for students to take notes on this tutorial


Source: M. O'Mahony, Open source images

Virtual Lab: Mutations

Virtual lab on Mutations from Concord Consortium. 

Source: The Concord Consortium


This article from Scitable discusses polyploidy in plants as well as some fish and amphibians.


Source: Scitable - Nature

Animation tutorial on polyploidy

Source: Pearson Essentials of Genetics

Sci Am article on Jumping Genes (2012)

Article from Scientific American (March 2012) on Jumping Genes.


Source: Scientific America (March 2012)

DNA Repair - web tutorial

Source: Pearson

Jamming Jumping Genes

Go to p 40 of the attached document for a short summary of new research on how eukaryotes are evolving mechanisms to control retrotransposons (another word for some Jumping Genes).


Source: HHMI Bulletin Winter 2015

Trinucleotide Repeat Disorders

The DNA sequence of some genes contain trinucleotide repeats, like CAG, CAG, CAG. Normally, if a gene has on the order of a dozen repeats, there is not a problem. The expansion of these repeats, however, are associated with several different diseases. The repeats can expand during DNA replication. DNA helicase holds the DNA open, providing access for DNA polymerase to copy the DNA sequence. The trinucleotide repeats can cause the polymerase to slip, making more copies of the repeated sequence and resulting in the formation of a hairpin loop since one DNA sequence is now longer than the other. When the hairpin section goes through a second round of replication, a new elongated complimentary strand is made. These repeat expansions can thus increase with each cell division and over successive generations in a family carrying the repeats. Fragile X is a result of this type of DNA change

Source: From Lecture Three of the 2003 Holiday Lectures Series "Learning From Patients: The Science of Medicine."