A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21

Linkage studies were performed in a large family with an autosomal dominant phenotype characterized by nephropathy and hypertension. In this family of Iraqi Jewish origin, the nephropathy develops into progressive renal failu re. By performing a genomewide linkage search, we localized the disease gen e to chromosome 1q21; the highest LOD score was obtained for the marker at locus D1S305, which yielded a maximum LOD score of 4.71 at a recombination fraction of 0. Recombination mapping defined an interval of similar to 11.6 cM, between the markers at loci D1S2696 and D1S2635, that contains the dis ease gene. Localization of the disease-causing gene in this family represen ts a necessary step toward isolation of the defective gene and toward a dee per understanding of the mechanisms of hypertension and progressive renal f ailure.