Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
- Universite de Montreal, Quebec (Canada)
- Albert Einstein College of Medicine, Bronx, NY (United States); and others
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. 21 refs., 1 fig., 1 tab.
- OSTI ID:
- 232724
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 25; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
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