This web page was produced as an assignment for Genetics 564, an undergraduate course at UW-Madison
Disease DevelopmentThe trademark of polycystic kidney disease is the formation of fluid-filled cysts throughout the kidneys. These cysts increase the size of kidneys and impair kidney function [3].
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PKD1Mutations in PKD1 result in autosomal dominant inheritance of polycystic kidney disease. Having one copy of a mutated gene inherited from an affected parent is sufficient to result in disease [4].
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Polycystin-1The PKD1 gene provides instructions for making a protein called polycystin-1. Inheriting a mutated copy of the PKD1 gene results in a dysfunctional copy of polycystin-1, which causes cells to divide abnormally and form cysts [5].
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References
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Site created by: Elizabeth Roeske
Last Updated: 5.12.2014 University of Wisconsin-Madison: Genetics 564 |