Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease

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.

Grantor dc:publisher

Edith Cowan University, Research Online, Perth, Western Australia

Year dc:date

2002

Author dc:creator

• McCluskey, Marie

• Polycystic kidney disease
• Genetic aspects
• Mutation
• Biology.
• Medicine and Health Sciences

Repository record dc:identifier

https://ro.ecu.edu.au/theses/723

OAI identifier oai:identifier

oai:ro.ecu.edu.au:theses-1724