Mutations

Question 1

Mutation

Answer 1

Changes in DNA that can result in no protein or an altered protein being synthesised.

⅔

Question 2

Single Gene Mutation

Answer 2

Alteration of a DNA nucleotide sequence because of the substitution, insertion, or deletion of nucleotides.

⅔

Question 3

Substitution Mutation

Answer 3

Result in one amino acid being changed for another, which may result in a non-functional protein or have little effect on the protein.

⅔

Question 4

Missense Mutation

Answer 4

Result in one amino acid being changed for another, which may result in a non-functional protein or have little effect on the protein.

⅔

Question 5

Nonsense Mutation

Answer 5

Result in a premature stop codon being produced, which results in a shorter protein.

⅔

Question 6

Splice Site Mutation

Answer 6

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

⅔

Question 7

Frameshift Mutation

Answer 7

Cause all the codons and all the amino acids after the mutation to be changed, which has a major effect on the structure of the protein produced.

⅔

Question 8

Duplication Mutation

Answer 8

Addition of a section of a chromosome from its homologous partner. Allows potential beneficial mutations to occur in a duplicated gene whilst the original gene can still be expressed to produce its protein.

⅔

Question 9

Deletion Mutation

Answer 9

Removal of a section of a chromosome.

⅔

Question 10

Inversion Mutation

Answer 10

Reversal of a section of a chromosome.

⅔

Question 11

Translocation Mutation

Answer 11

Addition of a section of a chromosome to a chromosome that is not its homologous partner.

⅔

Question 12

Chromosome Mutations

Answer 12

Structural changes to the chromosome, including changes in the number or arrangement of genes.

⅔