Linked Life Data

19397527

Source:http://linkedlifedata.com/resource/pubmed/id/19397527

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-7-24
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1365-2052
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
543-6
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease.
pubmed:affiliation
School of Veterinary Science, The University of Queensland, Brisbane, QLD 4072, Australia. c.oleary@uq.edu.au
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't