Honors Theses and Capstones

Date of Award

Summer 2013

Project Type

Senior Honors Thesis

College or School

COLSA

Department

Molecular, Cellular and Biomedical Sciences

Program or Major

Biomedical Science: Medical Microbiology

Degree Name

Bachelor of Science

First Advisor

Charles Walker

Second Advisor

David Cox

Abstract

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.

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