Master of Science (MS)
β-thalassemia is a genetic disease caused by mutations of the hemoglobin gene β (HBB). Over two hundred β-thalassemia mutations are known to date. While the pathological consequence of each β-thalassemia mutation has been well documented, the effect of a mutation at the molecular level of its DNA sequence is usually not illustrated for beginners. This paper describes the cause of β-thalassemia and a database-driven website containing mutant HBB sequences altered by β-thalassemia mutations. β-thalassemia mutations and their relevant data are first collected from the HbVar Database of Pennsylvania State University and loaded into a PostgreSQL database. Wild type HBB sequences affected by each mutation are then simulated and stored in the same database. At last a Perl script queries this database to dynamically create a web page with a list of mutant HBB sequences for view.
Gaeke, Vanessa, "A Database-Driven Website of β-Thalassemia Mutations" (2012). Master's Projects. 287.