A "reverse genetic" approach to autosomal dominant polycystic kidney disease

Biochemical, anatomical, pathophysiological and clinical studies of autosomal dominant "adult-type" polycystic kidney disease have cast little light on the underlying biochemical defect which causes the disease. The advent of recombinant DNA technology permits a novel approach to its pathophysiology. In this approach, termed "reverse genetics", the mutation which produces the disease is first localised by genetic linkage. This is followed by the identification and cloning of the "disease gene" itself, and the characterisation of its mutations. The recent assignment of the polycystic kidney disease mutation to the short arm of chromosome 16 is thus the first step in a reverse genetic approach to an understanding of the molecular pathology of this disorder.