Date of Award
Doctor of Philosophy
Faculty of Communications, Health and Science
Associate Professor Luba Kalaydjieva
Professor Alan Bittles
Dr Bernd Dworniczak
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected worldwide (Grantham, 1997). Mutations in at least two genes (PKD1, PKD2) can lead to the disease (European PDK Consortium, 1994; Mochizuki, et al, 1996). This project deals with autosomal dominant PKD, caused by mutations in the PKD1 gene, which account for 85% of reported cases.
McCluskey, M. (2002). Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease. https://ro.ecu.edu.au/theses/723