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AmpliSNiP MYBPC3 - R820W (qPCR)


Hypertrophic cardiomyopathy (HCM) is the most common heart disease in Ragdoll, Main coon and crossbreed cats. One of the possible causes of the disease is the mutation R820W within the MYBPC3 gene encoding the myosin binding C protein which is a component of sarcomeres. This mutation is autosomal dominant and it is a point mutation associated with the conversion of highly conserved arginine to tryptophan. The arginine replacement by tryptophan leads to changes in the myosin structure that are important for the functioning of the entire sarcomere and results in abnormal interactions between the myosin binding protein C –and other proteins. The disease progresses to congestive heart failure. The characteristic symptoms of the disease are short breath, pulmonary edema and exercise intolerance. Symptoms resulting from thromboembolic episodes as well as sudden cardiac death are also frequently observed.

The AmpliSNiP MYBPC3 R820W (qPCR) kit allows the analysis of the R820W polymorphism. The RM reaction mixture contains two probes designed to bind specifically to the sequence containing a different nucleotide at the polymorphic site. The FAM dye-labeled probe is complementary to the G nucleotide-containing sequence, while the HEX-dyed probe is complementary to the A nucleotide-containing sequence. The qPCR reaction is a duplex-type. The kit also includes positive controls (PC) which contain both versions of the assayed polymorphisms. They enable to control the correct course of the qPCR reactions.

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