ETIOLOGY OF APKD--MOLECULAR GENETICS OF PKD-1

常染色体显性遗传性多囊肾病的发病率为 约1/1000，约占末期的10% 令人讨厌的疾病。而导致一种形式的APKD的基本缺陷，有 躲避了生化和生理检测，已经有 PKD-1基因定位取得实质性进展。该基因的分离 而对基本缺陷的表征(S)将导致更好的 了解该病的病因和发病机制。这个 该项目的长期目标是克隆和鉴定PKD-1 基因和它的产品。为此，我们将使用高效的 从PKD-1附近的间隔扫描基因组DNA的方法 表达序列。用外显子捕捉法恢复表达序列 将通过遗传和分子方法进行分析以确定是否存在 PKD-1基因。候选克隆将通过比较分析 正常个体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.