Mutation - Changes in the DNA that can result in no protein or an altered protein being synthesised., Substitution - When nucleotide(s) in a DNA sequence are replaced with (a) different nucleotide(s) (changing the sequence of bases in the DNA), Types of substitution mutations - Missense, nonsense and splice site mutations, Missense - A mutation that results in one amino acid in the protein being replaced with a different amino acid., Nonsense - A mutation that results in a premature stop codon being produced, which results in a shorter protein., Splice-site - A mutation that results in some introns being retained and/or some exons not being included in the mature mRNA transcript, Types of frameshift mutations - Insertion or deletion mutations, Insertion - A DNA nucleotide is added into the DNA sequence. This results in all codons in the DNA and all amino acids in the protein changing from the point of mutation onwards., Deletion (single gene) - A DNA nucleotide is removed from the DNA sequence. This results in all codons in the DNA and all amino acids in the protein changing from the point of mutation onwards., Chromosome structure mutation - A type of mutation where a section of a chromosome is altered and more than one gene is affected., Types of chromosome structure mutations - Duplication, deletion, inversion and translocation, Duplication - A section of a chromosome is added from its homologous partner., Deletion (chromosome structure) - A section of a chromosome is removed., Inversion - A section of chromosome is reversed., Translocation - A section of chromosome is added to the chromosome that is not its homologous partner.,

Higher 1.6 Mutation Key Terms

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