4.34

4.34: Mutation

Mutations are changes in DNA sequence that create new alleles and may be inherited if present in gametes.

LEARNING GOALS

By the end of this lesson

  • Define mutation.
  • Describe causes of DNA sequence change.
  • Distinguish somatic and germline mutation consequences.

BIG QUESTION

Where do genuinely new genetic variants come from?

Mutation introduces new sequences; selection and reproduction change their frequencies.

Mutation changes DNA sequence

A is a change in DNA base sequence. It can involve substitution, insertion, deletion or larger chromosome changes.

Mutations create new alleles; they do not automatically cause disease or visible change.

Errors and mutagens can cause mutations

DNA-copying errors can occur spontaneously. Ionising radiation and some chemicals increase mutation rate by damaging DNA or interfering with replication.

Cells have repair systems, but some damage persists and becomes a mutation.

Inheritance depends on cell type

A mutation in a body (somatic) cell may affect that cell lineage, sometimes contributing to cancer, but is not normally passed to offspring.

A mutation in a gamete or its precursor can be inherited by offspring.

Mutation contexts

The same DNA change has different consequences in different cells.

Mutation and inheritance
Location/typeImmediate effectInheritance potential
Somatic cellChanges one body-cell lineage.Usually not inherited.
Germline/gameteChanges reproductive DNA.Can be inherited.
SubstitutionOne base replaced.May be silent/missense/nonsense.
Insertion/deletionBase(s) added/removed.May shift reading frame.
Chromosome changeLarge DNA amount/arrangement altered.Potentially broad effects.
KEY TERMS

Language that earns precision

mutation
Change in DNA base sequence or chromosome structure/number.
somatic mutation
Mutation occurring in a non-reproductive body cell.
germline mutation
Mutation in a gamete or cell lineage producing gametes.
mutagen
Agent that increases mutation rate.

Common misconceptions

Claim: Mutations are always harmful.

Correction: They can be harmful, neutral or occasionally beneficial depending on context.

Claim: Mutation is the same as natural selection.

Correction: Mutation creates variants; selection changes reproductive success among variants.

Claim: Every body-cell mutation is inherited by children.

Correction: Only mutations in germline cells can usually be inherited.

EXAM LANGUAGE

Match the answer to the command word

Define

Use “change in DNA base sequence”.

Explain inheritance

Identify whether the mutation is in a gamete-producing lineage.

CHECK YOUR UNDERSTANDING

Recall, apply, then justify

01Explain3 marks

Define mutation and explain how it can create a new allele.

Hint

DNA sequence difference equals allele version.

Suggested marking points
  • A mutation is a change in DNA base sequence.
  • The changed sequence differs from the original gene sequence.
  • It therefore forms a new allele version of that gene.
02Distinguish2 marks

Distinguish somatic and germline mutations.

Hint

Body lineage versus reproductive lineage.

Suggested marking points
  • Somatic mutations occur in body cells and are usually not inherited.
  • Germline mutations occur in gametes/gamete precursors and can be inherited.
STRETCH AND CHALLENGE

Explain why a mutation is necessary but not sufficient for evolution by natural selection.

Planning hint

New variant, inheritance, differential reproduction, frequency.

What a strong design includes
  • Mutation creates a new allele/variation.
  • The allele must be inherited to affect future generations.
  • Individuals with different alleles may differ in survival or reproduction.
  • Selection changes reproductive success in a particular environment.
  • The allele frequency must increase or decrease across generations.
  • A neutral mutation may persist without being selected.
END OF THE LESSON

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Practise 4.34: 15 recall questions · 13 exam questions