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MutationsEdexcel A-Level Biology A: Flashcards

What these 13 flashcards ask

  • What is a mutation?
  • How can an error in DNA replication cause a mutation?
  • What is a substitution?
  • What is a silent mutation?
  • What is a nonsense mutation?
  • What is a frameshift?
  • What happens if three bases are deleted?
  • Why can a change in primary structure change function?
  • What does the CFTR gene code for?
  • What is the most common cystic fibrosis mutation?
  • Why does the CFTR protein not work in the most common mutation?
  • Why is mucus thick in cystic fibrosis?
  • Why do people with cystic fibrosis get lung infections?

Exam questions on Mutations

  1. The coding strand of part of a gene has the base sequence CAG TTA GGC. After an error during DNA replication, the same part of the gene in one daughter cell has the base sequence CAG TAA GGC. The mRNA has the same sequence as the coding strand, with uracil in place of thymine, and UAA is a stop codon.
    Explain how an error in DNA replication could produce this change in the base sequence.2 marks
  2. The coding strand of the start of a gene has the base sequence ATG GAA CTT AGC. In one person a mutation deletes a single base, the G at the start of the second triplet, so the sequence reads ATG AAC TTA GC.
    Explain how this mutation could change the structure of the protein made from this gene.2 marks
  3. Cystic fibrosis is caused by mutations in the CFTR gene, which codes for a protein that forms a channel for chloride ions in the cell-surface membranes of epithelial cells. The most common mutation is a deletion of three bases, which removes one amino acid, phenylalanine, from the CFTR protein. The altered protein is folded incorrectly and does not reach the cell-surface membrane.
    Explain how the deletion of three bases in the CFTR gene leads to a protein that cannot function as a chloride ion channel.3 marks
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Written by the Exaim team, led by Shaun Daswani (Head of Upper Secondary, Improve ME Institute; MSc Financial Mathematics, Imperial College London; BSc, UCL) and Jason Daswani (operational lead, Improve ME Institute; LSE).