Mutations (WJEC GCSE Biology)

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Mutations

  • Mutations are random genetic changes, that can sometimes result in the creation of brand-new alleles or genes
  • Most mutations have no effect on the phenotype as the protein that a mutated gene produces may work just as well as the protein from the non-mutated gene
  • Rarely, mutations lead to the development of new alleles and new phenotypes. If they do, most will have a small effect on the organism
  • Occasionally, the new allele gives the individual a survival advantage over other members of the species
  • For example:
    • A bird develops a mutation leading to a change in beak shape
    • This gives the bird access to a wider range of food sources
    • This increases the chances that the bird will survive and reproduce
    • Therefore giving more chances of passing on the mutated allele, and therefore 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
  • 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
    • The greater the exposure to ionising radiation, the more chance there is of mutations in DNA
  • 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

Examiner Tip

Note that in the exam, it is enough just to refer to the impact of 'ionising radiation' on mutations, without reference to specific examples.

Mutations & Cystic Fibrosis

Cystic fibrosis

  • Cystic fibrosis is a genetic disorder of cell membranes
  • It results in the body producing large amounts of thick, sticky mucus in the air passages which blocks the bronchioles
  • Over time, this may damage the lungs and stop them from working properly
  • Cystic fibrosis arises from a mutation and can be inherited as a recessive allele (f)
  • This means:
    • People who are heterozygous (only carry one copy of the recessive allele) won’t be affected by the disorder but are ‘carriers’
    • People must be homozygous recessive (carry two copies of the recessive allele) in order to have the disorder
    • If both parents are carriers, the chance of them producing a child with cystic fibrosis is 1 in 4, or 25%
    • If only one of the parents is a carrier (with the other parent being homozygous dominant), there is no chance of producing a child with cystic fibrosis

Inheritance of cystic fibrosis genetic diagram

Inheritance of cystic fibrosis

Inheritance of cystic fibrosis if both parents are carriers or if only one parent is a carrier

Family trees

  • The patterns of inheritance can be shown using family trees
  • This may be useful in determining the risks to other members of the family
    • They key shows that individuals with the shaded blue shapes do not have the disorder whereas those with red borders and no shading are sufferers

Family tree diagram

Family pedigree chart

A family tree allows us to trace the inheritance of cystic fibrosis

Gene therapy

  • Modern medical research is exploring the possibility of genetic modification to overcome some inherited disorders, such as cystic fibrosis
  • As these inherited genetic diseases are caused by faulty genes, it may be possible to treat these by inserting working versions of these genes into people with the genetic disease
  • This is called gene therapy
  • Unfortunately, treatment by gene therapy is not straightforward
    • To treat cystic fibrosis sufferers, genes can be introduced into the body via an inhaler which is breathed into the lung tissue, but there is no guarantee that they will work
    • It is difficult to ensure that the correct cells are targeted
    • Gene therapy is not a cure, as it does not alter all the cells of the body, this means that any relief of symptoms is temporary and treatment must be repeated

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Ruth

Author: Ruth

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Ruth graduated from Sheffield University with a degree in Biology and went on to teach Science in London whilst also completing an MA in innovation in Education. She gained 10 years of teaching experience across the 3 key science disciplines and physical education. Ruth decided to set up a tutoring business to support students in her local area. Ruth has worked with several exam boards and loves to use her experience to produce educational materials which make the mark schemes accessible to all students.