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Mutations sheet
7-mark answer frame

What is mutation? Explain its types with examples.

How to lay out the answer. Follow the frame, then write it in your own words.

  1. 1 · Define. A mutation is a sudden change in the genetic material that can be inherited. Hugo de Vries coined the term.
  2. 2 · Gene mutation. A change in the base sequence of a gene by substitution, deletion or insertion, e.g. sickle cell anaemia.
  3. 3 · Chromosomal: structure.
    • Deletion: a part is lost.
    • Duplication: a part is repeated.
    • Inversion: a part is turned round.
    • Translocation: a part moves to another chromosome.
  4. 4 · Draw the structural changes. [Diagram: a chromosome ABCDEF; deletion ABDEF; duplication ABCCDEF; inversion ADCBEF; translocation: a piece moved to another chromosome]
  5. 5 · Chromosomal: number.
    • Euploidy: whole sets added (polyploidy, 3n or 4n), e.g. seedless watermelon.
    • Aneuploidy: 2n + 1 or 2n − 1, e.g. Down syndrome (trisomy 21).
  6. 6 · Causes. Mutagens such as X-rays, UV rays and some chemicals.
  7. 7 · Link to daily life. Seedless watermelons and bananas are polyploids; avoid unnecessary X-rays.
  8. 8 · Close. Mutations are the source of new variation and the raw material of evolution.

Scoring tip: Use the letters ABCDEF to show each structural change. It is quick, clear and examiners like it.