Date of Award
Senior Honors Thesis
College or School
Molecular, Cellular and Biomedical Sciences
Program or Major
Biomedical Science: Medical Microbiology
Bachelor of Science
The aim of this project was to identify genetic variants that may influence the risk and progression of sarcoma through targeted genotyping of HSPA9 gene. It is important to look at genetic variants in DNA samples because if a variant is determined to be more likely than another, a screening for the particular variant can be done to identify a patient’s risk of sarcoma. The study population was sarcoma patients from the International Sarcoma Kindred Study. These patients had no mutations in p53 or MDM2. Genotyping data from the HapMap project (hapmap.org) for HSPA9 was used to identify the polymorphisms needed to tag the entire region. In order to genotype the DNA sample, KASP reagents (KBioSciences, UK) were used. KASP uses a two-set PCR process. Allele specific primers are used to preferentially amplify each allele of a given SNP. The specific genetic variations of HSPA9 in sarcoma patient DNA samples with no mutations in p53 or MDM2 amplification are not more or less likely to occur than in DNA samples with the mutation or amplification. If continued research can show that MDM2 is not amplified, but activated through other mechanisms such as the interaction between polymorphisms of mitochondrial genes, p53, or MDM2, we can propose anti-MDM2 therapies to the patients with these polymorphisms.
Hebert, Christine M., "Exploring the Importance of Single Nucleotide Polymorphisms of HSPA9 in DNA of Sarcoma Patients" (2013). Honors Theses and Capstones. 203.