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AmpliSNiP PKD1 - C3284A (qPCR)


Autosomal dominant polycystic kidney disease (AD-PKD) is the most common hereditary genetic disease in Persian cats and their crossbreeds, ragdolls et al. This disease is associated with a point mutation within the PKD1 gene. The nucleotide G to T is converted at position C3284A, which results in the introduction of the STOP codon into the mRNA sequence, and consequently the formation of a dysfunctional protein that is about 33% shorter at the C-terminus. This disease is characterized by kidney cysts that are detected in the cortical and medulla layer and occasionally in the liver and pancreas. These cysts lead to renal disfunction and consequently to renal failure.

The AmpliSNiP PKD1 C3284A (qPCR) kit allows the analysis of the C3284A 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 T 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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