Felix Liu

• MBBS
• The Role of Dominant-negative Mutations on the Autoimmune Regulator (AIRE) gene in Sporadic Addison’s Disease

Though sporadic Autoimmune Addison’s Disease (AAD) has not yet been linked to a single genetic cause, recent research suggests that mutations on the Autoimmune Regulator (AIRE) gene may play a role in its aetiology. This study aimed to identify novel AIRE mutations in 96 AAD patients. We PCR amplified DNA samples of these patients, using gel electrophoresis to confirm the method’s accuracy. The PCR product was purified and sent for Sanger sequencing. Finally, we searched for mutations in the resulting data using computer analysis. We discovered no novel mutations on the AIRE gene in sporadic AAD in our cohort.

Funding Source: Newcastle University