CA Flashcards
What is a missense mutation?
A change in one DNA base pair, resulting in the substitution of one amino acid for another in the protein made by a gene.
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What is a nonsense mutation?
A change in one DNA base pair that prematurely signals the cell to stop building a protein, resulting in a shortened protein.
What is an insertion mutation?
Changes the number of DNA bases in a gene by adding a piece of DNA.
What is a deletion mutation?
Changes the number of DNA bases by removing a piece of DNA, which can be small or large.Small deletions may remove one or a few base pairs, larger deletions can remove an entire gene or several neighbouring genes.
What can small deletions remove?
One or a few base pairs.
What can larger deletions remove?
An entire gene or several neighbouring genes.
What is a duplication mutation?
A piece of DNA that is abnormally copied one or more times.
What is a frameshift mutation?
Occurs when the addition or loss of DNA bases changes a gene’s reading frame.
What does a reading frame consist of?
Groups of three bases that each code for one amino acid.
What can result in frameshift mutations?
Insertions, deletions, and duplications.
What is a repeat expansion?
A mutation that increases the number of times that a short DNA sequence is repeated.
What are nucleotide repeats?
Short DNA sequences that are repeated a number of times in a row.
What is a trinucleotide repeat?
A repeat made up of 3 base pair sequences.
What is a tetranucleotide repeat?
A repeat made up of 4 base pair sequences.
True or False: A repeat expansion can cause the resulting protein to function improperly.
True
