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/
The SALSA MLPA Probemix P254-B2 PSEN1 contains 27 MLPA probes with amplification products between 136 and 463 nt. This includes 14 probes for the PSEN1
gene, with one probe for each of the 12 exons and two additional probes targeting exon 1 and intron 9. In addition, 13 reference probes are included and detect 13 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, one chromosome X, and one chromosome Y-specific fragment (see table in the product description). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com