PKD1 GENE AND ITS MUTATIONS

点击翻译按钮获取中文摘要

DESCRIPTION (Directly taken from the application) Autosomal dominant polycystic kidney disease (APKD) is the most common renal hereditary disease, and accounts for 7-10 percent of renal failure. Incidence of the disorder is approximately 1/1000, making APKD one of the most common genetic diseases. In the summer of 1994, the gene responsible for the majority of APKD, (PKD1) was identified by the European Polycystic Kidney Disease Consortium, opening the door to molecular analyses of this disease. In turn, a better understanding of the pathophysiology of the disease should ultimately lead to improved diagnosis and treatment of the disease. A major goal of the work described in this proposal is to characterize mutations in PKD1, including identification, determination of frequency, genotype-phenotype correlations, and the effect of different mutations on cellular localization of the PKD1 gene product. As part of these studies, we will complete the construction of a full-length cDNA, and generate additional antibodies to various PKD1 protein domains. Together with the complete genomic sequence, expressed transcript(s), and carboxyterminal antibodies that we have previously generated, these reagents will be used to help characterize the different mutations identified in patient samples.