title: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease.
abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease with loci on chromosomes 16p and 4q. It has a moderately high spontaneous mutation rate, although the relative frequency of such mutations at each gene locus is unknown. In studying genetic heterogeneity in the French-Canadian population, we identified a family in which a classical clinical presentation of ADPKD resulted from a mutation at a locus genetically distinct from either of the previously described loci for this disease. This suggests the existence of a third genetic locus for ADPKD.
authors.affiliation: Department of Biochemistry, Hôpital du Sacré-Coeur de Montréal, Université de Montréal, Québec, Canada.
authors.forename: M C
authors.initials: MC
authors.lastname: Daoust
authors.forename: D M
authors.initials: DM
authors.lastname: Reynolds
authors.forename: D G
authors.initials: DG
authors.lastname: Bichet
authors.forename: S
authors.initials: S
authors.lastname: Somlo
mesh_terms: D000368:Aged; D001483:Base Sequence; D002885:Chromosomes, Human, Pair 16; D002894:Chromosomes, Human, Pair 4; D017931:DNA Primers; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics*
chemical_list: D017931:DNA Primers