Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P196 TNNT2 BAG3 probemix - 100 reactions

SALSA MLPA P196 TNNT2 BAG3 probemix - 100 reactions

application: Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy
region: TNNT2 1q32 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P196-100R

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

Detailní popis SALSA MLPA P196 TNNT2 BAG3 probemix - 100 reactions

P196-100R SALSA MLPA P196 TNNT2-BAG3 probemix – 100 rxn

Defects in the TNNT2 gene are associated with familial hypertrophic cardiomyopathy as well as dilated cardiomyopathy (DCM). The protein encoded by TNNT2 is the tropomyosin-binding subunit of the troponin complex, which regulates muscle contraction in response to alterations in intracellular calcium ion concentration. The TNNT2 gene (17 exons), spans ~19 kb of genomic DNA, and is located on 1q32, ~200 Mb from the p-telomere.

Copy number changes of the BAG3 gene have also been found to be a cause for some cases of DCM (Norton et al, Am J Hum Genet. 2011) but the frequency of copy number variation still needs to be assessed. The BAG3 gene is a member of the Bcl2-associated athanogene (BAG) family proteins, which causes cardiomyopathy and myofibrillar myopathy and is characterized by myofibril and Z-disc disruption. The BAG3 gene (4 exons), spans ~26 kb of genomic DNA, and is located on 10q25.2 ~121 Mb from the p-telomere.

The P196-B1 TNNT2-BAG3 probemix contains one probe for each exon of the TNNT2 gene with the exception of exon 13. Two probes are present for exon 17. This probemix furthermore contains one probe for each exon of the BAG3 gene. In addition, nine reference probes are included in this probemix, detecting different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect copy number changes of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of 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 this SALSA® MLPA® test.

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