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 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.
Cohn
D H
DH
Ahmanson Department of Pediatrics, Cedars-Sinai Research Institute, and Departments of Human Genetics and Pediatrics, UCLA School of Medicine, Los Angeles, CA, USA.
Shohat
T
T
Yahav
M
M
Ilan
T
T
Rechavi
G
G
King
L
L
Shohat
M
M
D000328:Adult; D017668:Age of Onset; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000453:epidemiology / Q000235:genetics*; D007493:Iraq / Q000208:ethnology; D007557:Israel; D007585:Jews / Q000235:genetics; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D051437:Renal Insufficiency / Q000453:epidemiology / Q000235:genetics*
D005819:Genetic Markers