Mutations

Biology: AQA A Level, topic 8.1.1

Types of Mutation

Mutations are changes in the base sequence of DNA. Mutations can be caused by errors in DNA replication. The different types of mutation are:

Addition

Addition

  • Addition mutations are where one or more bases are added to the DNA sequence.
  • E.g. ATCGTT → ATCCGTT
    • In this example, a C is added in the middle of the DNA sequence.
Deletion

Deletion

  • Deletion mutations are where one or more bases are removed from the DNA sequence.
  • E.g. ATCGTT → ATCTT
    • In this example, the G is deleted from the middle of the DNA sequence.
Substitution

Substitution

  • Substitution mutations are where one or more bases are changed in the DNA sequence.
  • E.g. ATCGTT → ACCGTT
    • In this example, the first T is substituted for a C.
Inversion

Inversion

  • Inversion mutations are where the order of bases in the DNA sequence are inverted (reversed).
  • E.g. ATCGTT → TTGCTA
    • In this example, the order is reversed (i.e. the A moves from position 1 to position 6).
Duplication

Duplication

  • Duplication mutations are where one or more bases are duplicated (repeated) in the DNA sequence.
  • E.g. ATCGTT → ATATCGTT
    • In this example, the A and T found in positions 1 and 2 are duplicated.
Translocation

Translocation

  • Translocation mutations are where a section of the DNA sequence is moved to another section of the DNA sequence.
  • Translocation can be within and across chromosomes.

Test yourself on Mutations

  • Which of the following mutations is a substitution mutation?

  • Which of these is a duplication mutation?

  • Which of the of the following statements about mutations are true?

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