Lecture 19 Effects of Mutations I Flashcards
Define deletion mutation
Deletion mutation is a mutation resulting from deletion of one or more base pairs from a DNA sequence.
Define a frameshift mutation
A mutation that results from insertion or deletion of a group of base pairs that is not a multiple of three and which therefore changes the frame in which translation occurs.
Define insertion mutation
A mutation that arises by insertion of one or more base pairs into a DNA sequence.
Define inversion
A mutation which involves excision of a portion of a DNA molecule followed by re-insertion at the same position but in the reverse orientation.
Define nonsense mutation.
An alteration in the nucleotide sequence that changes the triplet codon for an amino acid into a termination codon.
Define non-synonomous mutation
This is a mutation that changes the amino acid sequence of a protein.
Define point mutation
a mutation that results from a single base pair change in a DNA molecule
Define readthrough mutation
A mutation that changes a termination codon into a codon specifying an amino acid, and hence results in readthrough of the termination codon.
Define second site reversion
a second mutation that reverses the effect of a previous mutation in the same gene but does not restore the original nucleotide sequence.
Define silent mutation
A change in the DNA sequence that has no effect on the expression or functioning of any gene or gene product.
Define synonymous mutation
a mutation that does not alter the protein chain.
Explain what is meant by a transition
This is a point mutation that replaces a purine with another purine, or a pyridmidine with another pyrimidine.
Explain what is meant by a transversion
A point mutation that involves a purine being replaced by a pyrimidine or vice versa.
What is the difference between a transition and a transversion mutation
A transition mutation occurs when a purine is switched with another purine. It is a point mutation.A transversion is a point mutation where a purine is switched with a pyrimidine.
Explain why nonsene and frameshift mutations are more likely to result in an altered protein
frameshift mutations occur due to insertion of nucleotides (not multiple of 3) which changes the frame in which the protein is read.