Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease

O'Leary, C. A., Duffy, D., Biros, I. and Corley, S. (2009) Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease. Animal Genetics, 40 4: 543-546. doi:10.1111/j.1365-2052.2009.01863.x


Author O'Leary, C. A.
Duffy, D.
Biros, I.
Corley, S.
Title Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease
Journal name Animal Genetics   Check publisher's open access policy
ISSN 0268-9146
1365-2052
Publication date 2009-08-01
Sub-type Article (original research)
DOI 10.1111/j.1365-2052.2009.01863.x
Open Access Status
Volume 40
Issue 4
Start page 543
End page 546
Total pages 4
Place of publication Oxford, United Kingdom
Publisher Wiley-Blackwell Publishing
Language eng
Formatted 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.
Keyword Dog
Linkage analysis
PKD1
Polycystic kidney disease
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Veterinary Science Publications
 
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Created: Thu, 03 Sep 2009, 17:48:53 EST by Mr Andrew Martlew on behalf of School of Veterinary Science