General information
The SALSA MLPA
Probemix P218 LPL is a
research use only (RUO) assay for the detection of deletions or duplications in the
LPL gene, which is associated with lipoprotein lipase deficiency.
The
LPL gene encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. Lipoprotein lipase functions as a homodimer and has the dual function of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Certain mutations can cause lipoprotein lipase deficiency, which is characterised by increase fatty acid levels, pancreatitis, hepatosplenomegaly and eruptive xanthomas, among others. Other mutations however, can result in conditions where the enzyme is overactive resulting in low fat levels.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1308/.
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 P218-C2 LPL contains 25 MLPA probes with amplification products between 130 and 337 nucleotides (nt). This includes This includes 12 probes for the
LPL gene, one probe for each of the ten exons and three probes for exon 1. Furthermore, two probes are included that target the upstream area of the
LPL gene and two probes targeting the downstream area. 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, and 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.