NON-INVASIVE PRENATAL DETECTION OF DELF508 CFTR MUTATION STATUS
Shaw, Patricia (2016). Master's Thesis, University of Pittsburgh. View full Master's Thesis
|Non-invasive prenatal testing for fetal aneuploidy using cell-free fetal DNA derived from maternal plasma is now part of the regular clinical offering for women in their first trimester of pregnancy. No commercial non-invasive prenatal test for monogenic disease, such as Cystic Fibrosis, is currently available. The goal of this study is to develop a non-invasive prenatal test for the detection of the mutation status of the fetus.
Allele specific approach to study histone demethylation using engineered KDM4A- (2)-Ketoglutarate pairs
Breski, Megan (2015). Master's Thesis, University of Pittsburgh. View full Master's Thesis
|The amplification of KDM4 proteins has been observed in various cancers and disrupts the cell cycle, normal cellular proliferation and apoptosis. This study aims to monitor the members of this protein family independently, which could elucidate their specific functions and the genes they regulate.
ATM copy number loss as a biomarker for radioresistance in urothelial bladder cancer cell lines
Lawrence, Chad (2015). Master's Thesis, University of Pittsburgh. View full Master's Thesis
|Certain cancer cells are more likely to survive ionizing radiation, a phenomenon known as radioresistance. In oral squamous cell carcinoma, one biomarker for radioresistance is the copy number loss of distal 11q (marked by the ATM gene) and defective TP53 function. This study investigates whether number loss of ATM is linked with radioresistance instead of the combination of distal 11q and defective TP53.
A Comprehensive Examination of Human Triploidy and Diploid/Triploid Mixoploidy
Carson, Jason (2009). Master's Thesis, University of Pittsburgh. View full Master's Thesis
|Triploidy is the presence of 69 chromosomes instead of the normal diploid number of 46 and can occur in a complete form or in a mixoploid state in which there are populations of diploid and triploid cells in the same individual. This project summarizes the current body of knowledge on triploidy and diploid/triploid mixoploidy, examines the remaining questions, and provides a side-by-side comparison of the two syndromes.