4.3.1Additional lessons
Gene Mutations — IB Biology SL Revision Notes & Topical Questions
5 min read 5 parts Lesson 106 of 142
Part 1 of 5Types of Gene Mutation

Genes are sequences of bases, so any change to the order of those bases can change the information they carry.
Gene mutation
- A change in the sequence of bases in a gene, which may create a new allele of that gene.
Substitution
- One base is replaced by a different base, so the length of the gene stays the same.
Insertion
- One or more extra bases are added into the sequence, making the gene longer.
Deletion
- One or more bases are lost from the sequence, making the gene shorter.
Point mutation
- A change affecting a single base, which includes single-base substitutions, insertions and deletions.
| Mutation | Original | Mutated |
|---|---|---|
| Substitution | ATG CCA | ATG CGA |
| Insertion | ATG CCA | ATG TCCA |
| Deletion | ATG CCA | ATG CA |
Part 2 of 5Causes and Randomness
Causes and Randomness
Copying errors
- Mistakes occasionally occur when DNA is replicated during the S phase of interphase, and a wrong base may be inserted.
Radiation
- High-energy radiation, such as ultraviolet light and X-rays, can damage DNA and alter bases.
Chemical mutagens
- Some chemicals, including components of tobacco smoke, react with DNA and change its base sequence.
Random
- Mutations occur by chance and at any time; we cannot predict which gene will change.
Part 3 of 5From Mutation to Allele
1
A base change occurs in a gene, either through a copying error or damage from radiation or chemicals.
2
If the change is not repaired before the DNA is replicated again, the new sequence is copied.
3
The mutated sequence may specify a different amino acid sequence in the protein the gene codes for.
4
The different version of the gene is a new allele, which can sometimes be inherited.
5
Natural selection then acts on the allele, favouring it, selecting against it or having no effect.
Part 4 of 5Worked Example
Question
- An mRNA reads AUG AAA GCU CCU, coding for Met-Lys-Ala-Pro.
- A single G is inserted immediately after AUG.
- Write the new codons and the amino acids they specify.
- Original sequenceAUGAAAGCUCCU.
- Insert G after the first three bases: AUG G AAAGCUCCU, so the sequence is AUGGAAAGCUCCU.
- Regroup into codonsAUG GAA AGC UCC U.
- AUG is Met, GAA is Glu, AGC is Ser and UCC is Ser.
Answer The new sequence is Met-Glu-Ser-Ser, so every amino acid after the insertion has changed (a frameshift).
Part 5 of 5Exam Checklist & Tips
4.3.1 – Key Points for the Exam
- Gene mutation A change in the base sequence of a gene.
- Substitution The replacement of one base with another.
- Insertion The addition of one or more bases to a sequence.
- Deletion The loss of one or more bases from a sequence.
- Mutagen A factor, such as radiation or a chemical, that increases the rate of mutation.
Common Mistakes
- Saying mutations are only caused by radiation; copying errors during replication are also common.
- Believing organisms can choose or direct which mutations arise; they are random.
- Mixing up the terms insertion and substitution.
- Using mutation and allele as if they mean the same; a mutation can create a new allele.
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