ETIOLOGY OF APKD--MOLECULAR GENETICS OF PKD-1

常染色体显性多囊肾病的发病率为 约1/1000，约占终末期的10% reanl病。 虽然导致APKD的一种形式的基本缺陷， 躲避生化和生理检测， 在PKD-1基因定位方面取得了实质性进展。 基因的分离 和基本缺陷的表征将导致更好的 了解疾病的病因和发病机制。 的 该项目的长期目标是克隆和表征PKD-1 基因及其产物。 为此，我们将采用高效的 从PKD-1周围的间隔扫描基因组DNA的方法， 表达序列。 通过外显子捕获回收的表达序列 将通过遗传和分子方法分析是否存在 PKD-1基因 候选克隆将通过比较 正常人和患病个体的序列分析。

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.