Autosomal dominant polycystic kidney disease has an incidence of approximately 1/1000, and accounts for approximately 10% of end-stage reanl disease. While the basic defect causing one form of APKD, has eluded biochemical and physiological detection, there has been substantial progress in mapping the PKD-1 gene. Isolation of the gene and characterization of the basic defect(s) would lead to better understanding of the etiology and pathogenesis of the disease. The long-term goal of this project is to clone and characterize the PKD-1 gene, and its product. To this end, we will use a highly efficient method of scanning genomic DNA from the interval around PKD-1 for expressed sequences. Expressed sequences recovered by exon trapping will be analyzed by genetic and molecular methods for the presence of the PKD-1 gene. Candidate clones will be analyzed by comparative sequence analysis from normal and affected individuals.

National Institute of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Research Project (R01)
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Diabetes, Endocrinology and Metabolic Diseases B Subcommittee (DDK)
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Integrated Genetics, Inc.
United States
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Burn, T C; Connors, T D; Dackowski, W R et al. (1995) Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium). Hum Mol Genet 4:575-82