Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease |
| |
| Authors: | C. A. O'Leary D. Duffy I. Biros S. Corley |
| |
| Affiliation: | School of Veterinary Science, The University of Queensland, Brisbane, QLD 4072, Australia.;Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, QLD 4029, Australia.;Australian Equine Genetics Research Centre, The University of Queensland, Brisbane, QLD 4072, Australia |
| |
| Abstract: | Bull terrier polycystic kidney disease (BTPKD) is a Mendelian disorder with many features reminiscent of human autosomal dominant polycystic disease, the latter disease being due to mutations at PKD1 and PKD2 loci. We investigated the role of the canine pkd1 orthologue in BTPKD via linkage analysis of a large kindred in which the disorder is segregating. Twelve microsatellite markers around the canine pkd1 locus (CFA6) were amplified from the genomic DNA of 20 affected and 16 unaffected bull terriers. An additional 28 affected dogs were genotyped at five key microsatellites. A highly significant multi-point LOD score that peaked over the canine pkd1 locus was observed (LOD = 6.59, best two-point LOD score LOD = 6.02), implicating this as the BTPKD locus. |
| |
| Keywords: | dog linkage analysis PKD1 polycystic kidney disease |
|
|
