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Genes and Health

Types of mutation and the CFTR gene

  • 3 things to know
  • Papers 1, 2 and 3

Overview

Recall questions on substitution, deletion, insertion and frameshift mutations, and on the mutation that causes cystic fibrosis.

What you need to know

Answer each one before you reveal it.

Your recallNot started
Key term

Define the term mutation.

Key term

How can mutations arise during DNA replication?

Key term

What is a substitution mutation?

Questions from this subtopic

Each one with the model answer underneath.

  1. 1

    Define the term mutation.

    Model answer

    A mutation is a change in the nucleotide sequence of DNA.

  2. 2

    How can mutations arise during DNA replication?

    Model answer

    Mutations can arise from errors during replication when DNA polymerase incorporates an incorrect nucleotide.

  3. 3

    What is a substitution mutation?

    Model answer

    A substitution mutation is when one nucleotide is replaced by a different nucleotide in the DNA sequence.

  4. 4

    What is a deletion mutation?

    Model answer

    A deletion mutation is when one or more nucleotides are removed from the DNA sequence.

  5. 5

    What is an insertion mutation?

    Model answer

    An insertion mutation is when one or more extra nucleotides are added into the DNA sequence.

  6. 6

    What is a frameshift mutation and when does it occur?

    Model answer

    A frameshift mutation occurs when a deletion or insertion of nucleotides (not in multiples of three) shifts the reading frame, altering all subsequent codons.

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