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  • Created by: sof98
  • Created on: 04-03-15 09:52
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  • Genetic Disorders
    • Cystic fibrosis
      • Cystic fibrosis is caused by a genetic mutation; specifically a mutation in a gene called CFTR. A genetic mutation is when the instructions found in all living cells become scrambled in some way, meaning that one or more of the processes of the body do not work in the way they should.
        • The CFTR gene normally creates a protein that regulates levels of sodium and chloride in cells. If the CFTR gene is defective, it results in a build-up of thick, sticky mucus in the body's tubes and passageways. These blockages damage the lungs, digestive system and other organs.
          • Cystic fibrosis is an inherited disorder that affects the cell membranes, causing the production of thick and sticky mucus.
            • It is caused by a recessive allele.
              • This means that it must be inherited from both parents.
                • Cystic fibrosis is the most common inherited disorder in the UK.
    • Polydactyly
      • Is an inherited condition in which a person has extra fingers or toes.
        • It is caused by a dominant allele of a gene.
          • This means it can be passed on by just one parent if they have the disorder.


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