Premium
Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease
Author(s) -
O’Leary C. A.,
Duffy D.,
Biros I.,
Corley S.
Publication year - 2009
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2009.01863.x
Subject(s) - pkd1 , biology , locus (genetics) , genetics , polycystic kidney disease , microsatellite , genetic linkage , mendelian inheritance , gene , allele , kidney
Summary 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.