This web page was produced as an assignment for Genetics 564, an undergraduate course at UW-Madison
PKD1 in Humans
PDK1 is located on chromosome 16 in humans. A zoomed-in graphic of chromosome 16 shows the location of PDK1 denoted as a red line relative to other genes within the chromosome. Mutations in PKD1 can occur at any point in the gene. More than 250 mutations in PKD1 have been implicated in the development of polycystic kidney disease. These mutations can take a variety of forms - they can be deletions or insertions of DNA base pairs, although most are believed to result in an abnormally small version of the polycystin-1 protein [2]. Because there is substantial heterogeneity in the mutations, there is corresponding heterogeneity in the mutated forms of the protein [3].
Incidence and Prevalence
Polycystic Kidney Disease can be caused by mutations in one of two genes: PKD1 or PKD2. Approximately 85% of cases of Polycystic Kidney Disease result from mutations in PDK1. Additionally, about 95% of Polycystic Kidney Disease cases result from parental inheritance, although new mutations can occur in families without a history at a rate of about 5% [6].
The incidence of polycystic kidney disease is between 1:1000 and 1:500 live births [6]. It is one of the most common hereditary disorders - it is 10 times more common than sickle cell disease, 15 times more common than cystic fibrosis, and 20 times more common than Huntingtons [7].
The disease is inherited in an autosomal dominant manner. This means that if an affected parent passes down a mutated copy of PDK1, the offspring will be affected with the disease. Since parents have two copies of each gene, this means that when a parent carries the mutation and has the disease, offspring have a 50% chance of inheriting the disease [6].
References
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Site created by: Elizabeth Roeske Last updated: 5.12.2014 University of Wisconsin-Madison: Genetics 564 |