期刊
GENE
卷 450, 期 1-2, 页码 70-75出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2009.09.016
关键词
Dog genetic disease; Disease model; Blood phospholipids; Platelet activation
资金
- Cornell University's Vertebrate Genomics Center
- Seeing Eye Foundation
Scott syndrome is a rare hereditary bleeding disorder associated with an inability of stimulated platelets to externalize the negatively charged phospholipid, phosphatidylserine (PS). Canine Scott syndrome (CSS) is the only naturally occurring animal model of this defect and therefore represents a unique tool to discover a disease gene capable of producing this platelet phenotype. We undertook platelet function studies and linkage analyses in a pedigree of CSS-affected German shepherd dogs. Based on residual serum prothrombin and flow cytometric assays, CSS segregates as an autosomal recessive trait. An initial genome scan, performed by genotyping 48 dogs for 280 microsatellite markers, suggested linkage with markers on chromosome 27. Genotypes ultimately obtained for a total of 56 dogs at 11 markers on chromosome 27 revealed significant LOD scores for 2 markers near the centromere, with multipoint linkage indicating a CSS trait locus spanning approximately 14 cm. These results provide the basis for fine mapping studies to narrow the disease interval and target the evaluation of putative disease genes. (C) 2009 Elsevier B.V. All rights reserved.
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