Mutations (Edexcel GCSE Biology: Combined Science)

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Mutations

  • Mutations are rare, random changes that occur in the sequence of DNA bases in a gene or a chromosome
  • Mutations occur continuously
  • As the DNA base sequence determines the sequence of amino acids that make up a protein, mutations in a gene can sometimes lead to a change in the protein that the gene codes for
  • Most mutations do not alter the protein or only alter it slightly so that its appearance or function is not changed
  • There are different ways that a mutation in the DNA base sequence can occur

Insertions

  • A new base is randomly inserted into the DNA sequence
  • An insertion mutation changes the amino acid that would have been coded for by the group of three bases in which the mutation occurs
    • Remember – every group of three bases in a DNA sequence codes for an amino acid

  • An insertion mutation also has a knock-on effect by changing the groups of three bases further on in the DNA sequence

Insertion mutation, downloadable IGCSE & GCSE Biology revision notes

An example of an insertion mutation

Deletions

  • A base is randomly deleted from the DNA sequence
  • Like an insertion mutation, a deletion mutation changes the amino acid that would have been coded for by the group of three bases in which the mutation occurs
  • Like an insertion mutation, a deletion mutation also has a knock-on effect by changing the groups of three bases further on in the DNA sequence

Substitutions

  • A base in the DNA sequence is randomly swapped for a different base
  • Unlike an insertion or deletion mutation, a substitution mutation will only change the amino acid for the group of three bases in which the mutation occurs; it will not have a knock-on effect

Substitution mutation, downloadable IGCSE & GCSE Biology revision notes

An example of a substitution mutation

The Effects of Mutations

  • Most mutations do not alter the protein or only alter it slightly so that its appearance or function is not changed
  • However, a small number of mutations code for a significantly altered protein with a different shape
  • This may affect the ability of the protein to perform its function. For example:
    • If the shape of the active site on an enzyme changes, the substrate may no longer be able to bind to the active site
    • A structural protein (like collagen) may lose its strength if its shape changes

  • On rare occasions mutations lead to the development of new alleles and so new phenotypes
  • Occasionally, the new allele (and its resulting phenotype) gives the individual a survival advantage over other members of the species
  • For example:
    • A bird develops a mutation leading to a change in feather colours
    • This makes it more attractive to birds of the opposite sex
    • Which causes the bird to breed more frequently and have more chances of passing on the mutated phenotype to the next generation

  • Mutations can also lead to harmful changes that can have dramatic effects on the body - for example, sickle cell anaemia in humans

Sickle cell anaemia

  • Sickle cell anaemia was the first genetic disease to be described in terms of a gene mutation
  • A gene mutation is a change in the base sequence of DNA
  • The mutation changes the molecule haemoglobin, causing the red blood cells (RBC’s) to become stiff and sometimes sickle-shaped when they release oxygen to the body tissues
  • The sickled cells tend to get stuck in narrow blood vessels, blocking the flow of blood
  • As a result, those with sickle cell disease suffer painful “crises” in their joints and bones
  • They may suffer strokes, blindness, or damage to the lungs, kidneys, or heart. They must often be hospitalized for blood transfusions and are at risk for a life-threatening complication called acute chest syndrome
  • Although many sufferers of sickle cell disease die before the age of 20, modern medical treatments can sometimes prolong these individuals’ lives into their 40s and 50s

Sickle-cell anaemia, IGCSE & GCSE Biology revision notes

Sickle cell anaemia is caused by abnormal haemoglobin which changes the shape of red blood cells

The Causes of Mutations

  • Mutations happen spontaneously and continuously but their frequency can be increased by exposure to the following:
    • Gamma rays, x - rays and ultraviolet rays - all types of ionising radiation which can damage bonds and cause changes in base sequences
    • Certain types of chemicals - for example chemicals such as tar in tobacco

  • Increased rates of mutation can cause cells to become cancerous, which is why the above are linked to increased incidence of different types of cancer

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Lára

Author: Lára

Expertise: Biology Lead

Lára graduated from Oxford University in Biological Sciences and has now been a science tutor working in the UK for several years. Lára has a particular interest in the area of infectious disease and epidemiology, and enjoys creating original educational materials that develop confidence and facilitate learning.