Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9

摘要: Background: Ebstein anomaly of the tricuspid valve is a congenital cardiac malformation characterised by downward displacement attachment septal and posterior leaflets valve. Canine (CTVM) morphologically similar to anomaly; familial occurrence CTVM has been described. Several observations suggest genetic cause but most cases appear be sporadic. Methods: Three purebred Labrador Retriever kindreds enriched for underwent clinical examination echocardiography. DNA was extracted from whole blood. Genotyping carried out using polymorphic repeat markers with an average spacing 15 cM information content 0.74. Results: Pedigree analysis identified segregating as autosomal dominant trait reduced penetrance. Genome wide linkage in one kindred susceptibility locus on dog chromosome 9 (CFA9) maximum multipoint lod score 3.33. The two additional showed conserved disease haplotype. Conclusions: This study identifies CFA9 founder effect apparently unrelated kindreds. These results provide basis positional candidate cloning effort identify gene. Identification gene will permit mutation screening patients anomaly, which should insights into programmes development.