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

ABSTRACT: 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 failure. By performing a genomewide linkage search, we localized the disease gene 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 approximately 11.6 cM, between the markers at loci D1S2696 and D1S2635, that contains the disease gene. Localization of the disease-causing gene in this family represents a necessary step toward isolation of the defective gene and toward a deeper understanding of the mechanisms of hypertension and progressive renal failure.

SUBMITTER: Cohn DH

PROVIDER: S-EPMC1287524 | biostudies-literature | 2000 Sep

REPOSITORIES: biostudies-literature

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

Cohn D H DH Shohat T T Yahav M M Ilan T T Rechavi G G King L L Shohat M M

American journal of human genetics 20000804 3

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 failure. By performing a genomewide linkage search, we localized the disease gene 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 in ...[more]

PMID: 10930359

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