HHB 1.4 Mutation Flashcards

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Mutation

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A random change to the DNA that can result in no protein being produced or the synthesis of an altered protein.

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Single gene mutation

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alteration of a DNA nucleotide sequence as a result of the substitution, insertion or deletion of nucleotides.

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Chromosome mutation

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a mutation which alters the structure or number of chromosomes

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Substitution

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a type of single gene mutation which occurs when one nucleotide is replaced by another

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Insertion

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A type of single gene mutation which occurs when an additional nucleotide is added to the sequence.

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Deletion (of nucleotides)

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A type of single gene mutation which occurs when a nucleotide is removed from a DNA sequence.

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Splice-site mutation

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occurs at the boundary of an exon and an intron (splice site).

This change can result in some introns being retained and/or some exons not being included in the mature transcript

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Frameshift mutation

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single gene mutation which results in all of the codons and all of the amino acids after the mutation to be changed.

This has a major effect on the structure of the protein produced. Results from a nucleotide Insertion or Deletion.

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Missense

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a substitution mutation where a single nucleotide change results in the substitution of one amino acid for another in a protein. This may result in a non-functional protein or have little effect on the protein.

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Nonsense

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a substitution mutation which results in a premature stop codon being produced which results in a shorter protein.