Date of Award

1-1-2002

Degree Type

Thesis

Degree Name

Doctor of Philosophy

Faculty

Faculty of Communications, Health and Science

First Advisor

Associate Professor Luba Kalaydjieva

Second Advisor

Professor Alan Bittles

Third Advisor

Dr Bernd Dworniczak

Abstract

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.

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