The SALSA MLPA
Probemix P243 SERPING1-F12 is a research use only (RUO)
assay for the detection of deletions or duplications in the SERPING1
genes, which are associated with hereditary angioedema (HAE).
HAE is a rare autosomal dominant disorder characterized by episodic local subcutaneous and submucosal oedema, involving the upper respiratory and gastrointestinal tracts. There are three types of HAE: type I, II, and III, which can be distinguished by underlying genetic cause and protein levels in the blood. HAE types I and II are primarily caused by defects in the SERPING1
gene, encoding the C1 esterase inhibitor protein (C1NH), which inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. In type I HAE, representing 85% of patients, serum levels of C1NH drop to less than 35%. In contrast, type II HAE is caused by non-functionality of the SERPING1
gene, leaving protein levels normal or even elevated. The SERPING1
gene is not involved in type III HAE, leaving the function and concentration of C1NH unaltered. Although type III is not fully explained, at least part of these patients harbour activating mutations in the F12
(factor 12) gene.
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 P243-B1 SERPING1-F12 contains 33 MLPA probes with amplification products between 168 and 500 nucleotides (nt). This includes eight probes targeting all exons of the SERPING1
gene and 13 probes for the F12
gene, targeting all exons with the exception of exon 3. In addition, eleven 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