Article from Uni Klinik Giessen New to the HCM Gentest of the medical small animal hospital of the Ludwig Maximilians university in Munich was accomplished a study to the two gene tests on HCM, available in Germany, with Maine Coons. The result shows that the gene test does not bring anything. The study resulted in that Maine Coons with HCM are just as frequently positively tested in the gene test, as Maine Coons without HCM.
Therefore the investment is not worthwhile itself into a gene test simply. In the following one we printed the result of the study, which was presented on the last weekend in the context of a lecture on a specialized congress for the animal medical profession in pouring. Genetic association of the A31P- and A74T-Polymorphismen with the felinen hypertrophen Kardiomyopathie with the Maine Coon C. Schinner, K. Weber, K. Hartmann, G. Wess, Abteilung for Kardiologie of the medical small animal hospital of the Ludwig Maximilians university Munich introduction: The hypertrophe Kardiomyopathie (HCM) is the most frequent feline heart illness with autosomal dominantem hereditary course and varying Penetranz. The A31P- and A74T-Polymorphismen (SNPs) in the kardialen Myosin being thing protein C3-Gen (MYBPC3) are regarded at present as causal mutations with Maine Coon cats. In practice ultrasonic diagnoses deviate frequently from the Genotyp. From zuechterischer as well as veterinary side is unclear, how with heart-healthy Genotyp positive cats will proceed are. A goal of the study were therefore the evaluation of the clinical association of both SNPs as well as the evaluation of the clinical validity of gene tests already marketed. Material and methods: 83 Maine Coon cats and 68 cats of different races entered study. Female animals had to be older as 36 months, male older than 24 months.
The phenotype "heart-healthy" or "HCM" had to be clear to assign. The Phaenotypisierung took place by means of heart ultrasonic, the Genotypisierung by means of Taqman® Genotyping Assays. Results: 21,13% of the heart-healthy animals were positive in the gene test for the A31P- and 32.84% for the A74T-SNP. 75% of the HCM group carried the healthy allele concerning the A31P- and 50% concerning the A74T-SNPs. The allele frequencies did not differ between the groups of phenotypes significantly. On the basis the available study population no reference existed that gene tests already marketed possess a praediktiven value. A computer-assisted protein analysis arranged the effect of the SNPs on the protein as benigne. The A31PPolymorphismus is specific for Maine Coons, while the A74T-Polymorphismus occurs also at other cat races. Conclusions: With the examined patient number no association was found between the HCM and the examined Polymorphismen. The gold standard for the breed selection exists further in the annual echokardiographischen investigation.