Explain how genetic tests can be used to diagnose your chosen disease.

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.