Date of Defense
Bruce Bejcek, Biological Sciences
Bin Teh, Van Andel Research Institute
Sok Kean Khoo, Van Andel Research Institute
Renal-cell carcinoma (RCC) is estimated to affect approximately 150,000 people throughout the world annually, causing about 78,000 deaths each year . Hereditary predispositions to RCC account for only around 1-4% of RCC cases, though they may involve the same genes that cause the sporadic RCC forms . Families with hereditary predispositions to RCC provide an important opportunity to identify and characterize the genes involved in carcinogenesis. These families allow researchers to study affected and unaffected members. Genes associated with five of these syndromes have been identified: VHL, MET, FH, BHD, and HRPT2. Specific DNA markers are considered linked to a disease of diseased family members always have certain nucleotides at the marker site and healthy family members have other nucleotides. This analysis may be done using allele size. When researchers are able to confirm a linkage, testing other markers that map close to the marker that has been found to be linked to the disease gene then zooms in on this area. This will bring researchers closer to the disease gene that they are interested in. Genes within the candidate region can then be determined by using database searches and transcript mapping. The genes found to be in the candidate area can then be cloned and screened for mutations. It can then be shown if any particular mutations are responsible for the disease state.
Hampton, Aaron, "Linkage Analysis of Familial Renal Cell Carcinoma" (2004). Honors Theses. 177.
Honors Thesis-Campus Only