The SALSA MLPA
Probemix P170 APP is a research use only (RUO)
assay for the detection of deletions or duplications in the APP
gene, which is associated with Early-Onset Alzheimer’s Disease (EOAD) and Cerebral Amyloid Angiopathy (CAA).
Duplications in the APP
gene result in accumulation of amyloid-β peptides in the parenchymal and vascular deposits and have been implicated in EOAD and CAA. The size of duplications can vary among patients, ranging from 0.58 to 6.37 Mb.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1161/
The SALSA MLPA Probemix P170-C3 APP contains 38 MLPA probes with amplification products between 128 and 440 nucleotides (nt). This includes 21 probes for the APP
gene, one probe for each exon of the gene , three probes for exon 1, and one probe for intron 1. Furthermore, five flanking probes upstream of the APP
gene and three flanking probes downstream of the APP
gene are included. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.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. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com