Genetic Disorders Assignment

SBI4U - Block 5: Protein Synthesis

Using the internet, find a genetic disorder that is caused by a mutation in a gene. Answer as many of the following questions about the disorder as possible.

You are going to synthesize all the information below and create a tack with the following information. Your target audience are university students who are seeking references about the following genetic disorder.

  • Where is the gene located (chromosome number, gene locus)?
  • What type of mutation causes the disorder (refer to section 5.6 in text)?
  • What is the function of the protein the gene codes for?
  • What effect does the mutation have on the structure of the protein the gene codes for?
  • What is the mechanism of the disorder (what effects does the alteration in function of the protein have on the workings of the cell and the body)?
  • Diagram of the wild type and mutated type protein and the pathway
  • What are the symptoms of the disorder?
  • Can the disorder be treated? If so, how?

Provide video clips, images that you think are relevant and important in sharing to your audience.

  • Minimum of 3 journal articles.

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