The SALSA MLPA
Probemix P471 EOFAD is a research use only (RUO)
assay for the detection of deletions or duplications in the PSEN1
, and APP
genes, which are associated with Early-Onset Familial Alzheimer Disease (EOFAD).
Alzheimer disease (AD) is a chronic neurodegenerative disorder characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. Patients usually suffer from failure of memory, and other features including poor judgement, confusion and language disturbance. AD can be diagnosed in families if multiple members are affected (familial AD; FAD). Early-onset FAD (EOFAD) refers to families in which onset is consistently before the age of 60 to 65 years and often before the age of 55 years.
EOFAD has a genetic component and is inherited in an autosomal dominant manner. Defects in the PSEN1
gene on chromosome 14, APP
gene on chromosome 21, and PSEN2
gene on chromosome 1 are the main cause of EOFAD. The protein encoded by the APP
gene is the amyloid beta precursor protein which is a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. A part of these peptides form the protein basis of the amyloid plaques found in the brains of patients with AD. The proteins encoded by the PSEN1
genes are presenilin proteins 1 and 2, respectively. Presenilins are thought to be involved in regulation of the cleavage of the amyloid beta precursor protein (APP) and of the Notch receptor.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1161/
This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
The SALSA MLPA Probemix P471-A1 EOFAD contains 53 MLPA probes with amplification products between 124 and 504 nucleotides (nt). This includes 12 probes for the PSEN1
gene, one probe or each exon, 20 probes for the APP
gene, one probe for each exon and an additional probe upstream of exon 1 and for intron 1, and 13 probes for PSEN2
gene, one probe for each exon. In addition, eight 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.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. 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