Description
Genes in Disease Essay.
Genes name Disease name
HFE. Haemochromatosis
Introduction (~400 words).
• Brief introduction to your gene and its function in health.
o Using figures it should be possible to address the following points from in this section:
Its chromosomal location.
How long is the gene?
Does the gene have any introns?
How long is the protein?
How many transcripts have been described and what is the size of your chosen transcript?
Main body (~1000 words).
• Brief introduction to your disease.
• Explain how the mutation you have chosen impacts on normal gene function.
• Briefly state the inheritance pattern of your chosen gene/disease pairing.
• Explain how genetic tests can be used to diagnose your chosen disease.
• Explain how the disease can be treated/managed.
• Explain the prognosis for your disease.
Conclusion (~100 words).
Summarise the findings of your report. No new information should be introduced.
