Mutations Flashcards
what is a mutation
a random change in genetic material of a cell
what are the two possible outcomes of a mutation on the protein which is expressed
either:
- no protein is expressed
- an altered protein is expressed
what is a single gene mutation
the change of a single DNA nucleotide
what is a chromosome structure mutation
an alteration to the structure of a whole chromosome
what are the three types of single gene mutation
- substitution
- insertion
- deletion
what are the three types of substitution mutation
- missense
- nonsense
- splice-site
What is a missense mutation and how does it affect the protein produced
- it’s a substitution mutation where a change in a codon results in a different amino acid being produced
- it may results in a change in shape of the protein meaning it can no longer perform it’s function or it may not have a significant effect
what is a nonsense mutation and how does it affect the protein produced
- A change in the codon from an amino acid to an early stop codon
- this results in a shorter, non functional protein being produced
what is a splice site mutation
a mutation which results in some introns being retained or some exons not being included in the mature mRNA transcript
what can nucleotide insertions or deletions result in
a frame shift mutation
what is a frame shift mutation and how does it affect the protein produced
- when the mutation causes all of the codons and all of the amino acids after the mutation to be changed .
- this can have a major effect on the structure of the protein produced
what are the 4 types of chromosome structure mutations
- duplication
- inversion
- translocation
- deletion
what is a translocation mutation
where a section of a chromosome is added to another chromosome which is not it’s homologous partner
how severe are chromosome structure mutations
due to the substantial changes a chromosome mutation can be fatal
