Mutations
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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