SALSA MLPA P254 PSEN1 probemix - 50 reactions

SALSA MLPA P254 PSEN1 probemix - 50 reactions

application: Alzheimer's disease (AD)
region: PSEN1 14q24.2 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P254-050R

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Detailní popis SALSA MLPA P254 PSEN1 probemix - 50 reactions

P254-025R SALSA MLPA P254 PSEN1 probemix – 50 rxn

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP) which is made in the brain and other tissues. These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Furthermore, it is believed that the presenilins are involved in cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined.

The PSEN1 gene (12 exons), spans ~ 85 kb of genomic DNA and is located on chromosome 14q24.2. The P254 probemix contains one probe for each exon of the PSEN1 gene. In addition, 15 reference probes are included in this probemix, detecting different autosomal chromosomal locations.

This SALSA® MLPA® kit is designed to detect deletions/duplications of one or more sequences in the aforementioned 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. 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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