SALSA MLPA Probemix P254 PSEN1 detects copy number variations in the PSEN1 gene.
Contents: 27 MLPA probes, including 14 probes for PSEN1 (covering all exons).
Tissue: human genomic DNA.
Application: research on Alzheimer's disease (AD).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P254 PSEN1 is a research use only (RUO) assay for the detection of deletions or duplications in the PSEN1 gene, which is associated with Alzheimer's Disease (AD).
AD patients with an inherited form of the disease mostly 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, either via the gamma-secretase complex or via direct protease activity.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1236/.
SALSA MLPA Probemix P254 PSEN1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.