Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P012 VWF mix 2 probemix - 50 reactions

SALSA MLPA P012 VWF mix 2 probemix - 50 reactions

SALSA MLPA P012 VWF mix 2 probemix - 50 reactions

application: Von Willebrand Disease (vWD)
region: vWF 12p13
  Detailní informace

Cena s DPH € 588.06
Cena bez DPH € 486.00
 50 react
Dostupnost Skladem
Kód produktu P012-050R

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

Detailní popis SALSA MLPA P012 VWF mix 2 probemix - 50 reactions

P012-050R SALSA MLPA P012 VWF mix 2 probemix – 50 rxn

Von Willebrand Disease (vWD) is the most common hereditary coagulation abnormality described in humans. vWD is caused by a deficiency of von Willebrand factor (vWF), a blood glycoprotein which mediates the interaction of platelets with damaged endothelial surfaces at sites of vascular injury. vWF also acts as the carrier for factor VIIIC, thus increasing the half-life of VIIIC in the circulation. Furthermore, the vWF protein is involved in a number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.

The VWF gene comprises 52 exons, spans about 178 kb of genomic DNA and is located on chromosome 12p13, 6 Mb from the p-telomere. The P011-B2 /  P012-B2 VWF probemixes contain probes for each of the 52 exons; two probes are present for the exons 2, 6, 28 and 47.

These SALSA® MLPA® probemixes are designed to detect deletions/duplications of one or more sequences in the VWF gene 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. 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. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons.

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