Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P168 ARVC-PKP2 probemix - 50 reactions

SALSA MLPA P168 ARVC-PKP2 probemix - 50 reactions

SALSA MLPA P168 ARVC-PKP2 probemix - 50 reactions

application: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
region: DSP 6p24, PKP2 12q11.21 Detailní informace

Cena s DPH € 588.06
Cena bez DPH € 486.00
 50 react
Dostupnost Skladem
Kód produktu P168-050R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P168 ARVC-PKP2 probemix - 50 reactions

P168-050R SALSA MLPA P168 ARVC-PKP2 probemix – 50 rxn

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 the plakophilin-2 (PKP2) gene have been found in about 30% of patients with ARVC. Other genes that have been linked to ARVC are desmoglein-2 (DSG2), desmoscollin-2 (DSC2), plakoglobin (JUP), desmoplakin (DSP), transforming growth factor-ß3 (TGFß3) and the cardiac ryanodine receptor (RYR2). Mutations in these latter genes are found in only a small subset of ARVC patients.

This P168-C1 probemix contains a probe for each exon of the PKP2 gene (two in exon 4), including one in the promoter region; six probes for DSP, three probes for the JUP, DSC2, DSG2 and TGFß3 genes and two probes for RYR2. In addition, eight reference probes are present detecting several autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more exons of the aforementioned genes in a DNA sample. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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