Unit 1: DNA and the Genome
Key Area 1.6 Mutations
1
2
State what is meant by the term mutation.
Define single gene (point) mutations and describe examples of these:
substitution, insertion, deletion of nucleotides.
3 Be able to describe how single-nucleotide substitutions can result in the
following mutations: missense, nonsense and splice-site mutations.
4 Investigate how point mutations can be silent, neutral, missense, nonsense
or frame-shift.
5 State that nucleotide insertions or deletions result in frame-shift
mutations.
7 Nucleotide insertions may lead to expansion of nucleotide sequence
repeats.
7 Explain the impact of mutations on splice sites and repeats.
8 Describe chromosomal structure mutations (duplication, deletion, inversion,
translocation) and how they affect evolution.
9 Identify how non-disjunction alters the chromosome number.
10 Describe the importance of mutations and gene duplication in evolution.
11 Describe the polyploidy on plants with named examples.
12 Describe the importance of polyploidy in evolution and human food crops.
Unit 1: DNA and the Genome
Key Area 1.6 Mutations
1
2
State what is meant by the term mutation.
Define single gene (point) mutations and describe examples of these:
substitution, insertion, deletion of nucleotides.
3 Be able to describe how single-nucleotide substitutions can result in the
following mutations: missense, nonsense and splice-site mutations.
4 Investigate how point mutations can be silent, neutral, missense, nonsense
or frame-shift.
5 State that nucleotide insertions or deletions result in frame-shift
mutations.
7 Nucleotide insertions may lead to expansion of nucleotide sequence
repeats.
7 Explain the impact of mutations on splice sites and repeats.
8 Describe chromosomal structure mutations (duplication, deletion, inversion,
translocation) and how they affect evolution.
9 Identify how non-disjunction alters the chromosome number.
10 Describe the importance of mutations and gene duplication in evolution.
11 Describe the polyploidy on plants with named examples.
12 Describe the importance of polyploidy in evolution and human food crops.