KW HHB Unit 1 Mutations

What is a mutation?

• changes in the DNA that can result in no protein or an altered protein being synthesised.

• changes in the DNA that always result in an altered protein being synthesised.

• changes in the DNA that always result in no protein being produced

• changes in the DNA that result in a new protein being synthesised

Single gene mutations involve the alteration of a DNA ................................. sequence

Single gene mutations involve the alteration of a DNA nucleotide sequence as a result of the ............

• substitution, insertion or duplication of nucleotides.

• substitution, inversion or deletion of nucleotides.

• substitution, insertion or deletion of nucleotides.

• addition, insertion or deletion of nucleotides.

Nucleotide substitutions can be .................

• missense and nonsense mutations.

• splice-site and nonsense mutations

• missense and splice-site mutations

• missense, nonsense and splice-site mutations.

Missense mutations result in

• some introns being retained and/or some exons not being included in the mature transcript.

• amino acids being deleted

• one amino acid being changed for another.

• a premature stop codon

Which description describes the effect on the protein of a missense mutation?

• may result in a non-functional protein or have little effect on the protein.

• may result in a functional protein or have little effect on the protein.

• may result in a non-functional protein or have a major effect on the protein.

• will result in a shorter protein

Nonsense mutations result in ....................

• some introns being retained and/or some exons not being included in the mature transcript.

• the deletion of an amino acid

• one amino acid being changed for another

• a premature stop codon

Which description describes the effect on the protein of a nonsense mutation?

• may result in a non-functional protein or have little effect on the protein.

• may result in a functional protein or have little effect on the protein.

• may result in a non-functional protein or have a major effect on the protein.

• will result in a shorter protein

Splice-site mutations result in

• some introns being retained and/or some exons not being included in the mature transcript.

• all of the codons and all of the amino acids after the mutation being changed.

• one amino acid being changed for another.

• a premature stop codon

Frame-shift mutations result in

• some introns being retained and/or some exons not being included in the mature transcript.

• all of the codons and all of the amino acids after the mutation being changed.

• one amino acid being changed for another.

• a premature stop codon