General information The SALSA MLPA Probemix P348 ATP1A2-CACNA1A-PRRT2 is a
research use only (RUO) assay for the detection of deletions or duplications in the
ATP1A2,
CACNA1A and
PRRT2 genes, which are associated with familial hemiplegic migraine (FHM).
Migraine is a common neurological disorder that affects up to 15% of the general population (Vos et al. 2012). FHM is a rare autosomal dominantly inherited subtype of migraine with aura. In case of FHM, the aura usually consist of a phase with hemiparesis accompanied by typical aura symptoms, including visual, sensory or speech disturbances, followed by a headache phase (Jen JC. 2015). Four genes have been identified for different types of FHM:
CACNA1A,
ATP1A2,
SCN1A and the more recently identified gene
PRRT2 (Friedrich et al. 2016).
The
ATP1A2 gene (23 exons) spans ~28 kb of genomic DNA and is located on 1q23.2, ~160 Mb from the p-telomere. The
CACNA1A gene (47 exons) spans ~300 kb of genomic DNA and is located on 19p13, ~13 Mb from the p-telomere. The
PRRT2 gene (4 exons) spans ~3.7 kb of genomic DNA and is located on 16p11.2, ~30 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1388/.
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.
Probemix content The SALSA MLPA Probemix P348-C1 ATP1A2-CACNA1A-PRRT2 contains 49 MLPA probes with amplification products between 130 and 511 nucleotides (nt). This includes 21 probes for
ATP1A2, 15 probes for
CACNA1A and five probes for
PRRT2. 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.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, and one chromosome X and one chromosome Y-specific fragment (see table below). 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.