Mutations
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Describe the term mutations
Changes in the DNA that can result in no protein or an altered protein being synthesised
Describe a frameshift mutation
Causes all codons and all amino acids after the mutation to be changed
What is Duplication
A section of a chromosome is added from its homologous partner
What is deletion
A section of a chromosome is removed
What is inversion
A section of a chromosome is reversed
what is translocation
A section of a chromosome is added to a chromosome that is not its homologous partner
what is a splice site mutation and what is the effect on protein formation
Nucleotide substitution results in some introns being retained and/or some ex ones not being included in the mature transcript
4 types of single gene mutation
• Substitution - Missense • Substitution - Nonsense • Insertion - Frameshift • Deletion - Frameshift