Unit 1.4
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What is a mutation?
Change in DNA that can result in no protein or an altered protein being produced. This can be a large or very small change
How do mutation occur?
They occur rarely and are spontaneous and random in nature.
What are mutation the only new source of?
New alleles
Single gene mutations involve the alteration of a DNA nucleotide sequence as a result of?
• Substitution • Insertion • Deletion
Types of substitution mutation?
• Mis-sense • Non-sense • Splice Site
How does mis-sense mutation have an effect on gene, effect on protein structure and effect on protein function?
Effect on gene - 1 base is substituted for a different base Effect on protein - One base is amino acid resulted by different codon Effect on protein function - Little effect or non-functional
How does non-sense mutation have an effect on gene, effect on protein structure and effect on protein function?
Effect on gene - Results in a premature stop codon being produced Effect on protein structure - Shorter protein Effect on protein function - Little effect or non-functional
How does splice site mutation have an effect on gene, effect on protein structure and effect on protein function?
Effect on gene - Same exons not included Effect on protein structure - Different protein Effect on protein function - little effect or non-functional
Insertion and deletion are what types of mutations?
Frame-shift mutations
What is a frame-shift mutation?
Causes all of the codons and all of the amino acids after the mutation to be changed. This had a major effect on the structure of the protein produced
What is substitution?
Where one base is changed to another. This may change one amino acid, have no effect or produce a stop codon
What is insertion?
A base that is added to the DNA sequence which usually causes a frameshift. This can also cause all codons and amino acids after mutation to change which can have major effect on the protein being produced
What is deletion?
A base that is removed from the DNA sequence. This can also cause a frameshift mutation
What does duplication do to the chromosome?
A section of the chromosome is added from its homologous partner
What does deletion do the chromosome?
A section of the chromosome is removed
What does inversion do to the chromosome?
A section of the chromosome is reversed
What does translocation do to the chromosome?
A section of the chromosome is added to a chromosome which is not its homologous partner