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SALSA P168 ARVC-PKP2 MLPA KIT
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease with primarily right ventricular dysplasia and is characterized by fibro-fatty infiltration of the myocardium. The clinical presentation is irregular but predominantly characterized by ventricular arrhythmias, syncope and sudden cardiac death. Diagnosis can be difficult in certain cases but is facilitated by criteria proposed by the ARVD Task Force. Mutations in plakophilin-2 (PKP2) have been found in about 30% of patients with ARVC. Other genes that haven been linked to ARVC are plakoglobin (JUP), desmoplakin (DSP), transforming growth factor-ß3 (TGFß3) and the cardiac ryanodine receptor (RYR2). However, mutations in these latter genes are found in only a small subset of ARVC patients. Plakophilin-2 (PKP-2), an armadillo-related protein containing ten 42-amino acid armadillo repeat motifs, forms with other proteins including plakoglobin and desmoplakin, an integral part of cardiac desmosomes. These are major cell adhesion complexes linking desmosomal cadherins with desmoplakin and the intermediate filament system providing structural and functional integrity to adjacent cells. These structures are considered important for rigidity of cells and cell signalling. PKP2 contains 14 exons and spans over 105.9 kb of genomic sequence on chromosome 12p11.21. We combined probes for PKP2, JUP, DSP, TGFß3 and RYR2 in one MLPA probe mix. The mix contains 18 probes for PKP2, 7 probes for DSP and 3 probes each for JUP, TGFß3 and RYR2.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 04; 16-03-2007 Last change in probe mix content: Lot 0306 (March 2006) Current Lot Number.: Lot 0307
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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