Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Medicine and Health Sciences
Mutation Detection For Genotype/Phenotype Correlation Studies In Autosomal Dominant Polycystic Kidney Disease, Marie Mccluskey
Mutation Detection For Genotype/Phenotype Correlation Studies In Autosomal Dominant Polycystic Kidney Disease, Marie Mccluskey
Theses: Doctorates and Masters
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.