General information
The SALSA MLPA Probemix P265 PROC is a
research use only (RUO) assay for the detection of deletions or duplications in the in
PROC gene, which is associated with protein C deficiency.
Protein C deficiency is usually inherited as an autosomal dominant trait that is associated with an increased risk of venous thrombosis. A very rare severe homozygous (or compound heterozygous) form of protein C deficiency was first described as a cause of neonatal purpura fulminans, resulting in rapid death caused by disseminated intravascular coagulation (DIC).
Protein C (PROC) is a vitamin K-dependent serine protease zymogen. Purified human activated protein C selectively destroys factors Va and VIII in human plasma and thus has an important anticoagulant role. Regulatory DNA elements responsible for
PROC gene expression have been identified in the upstream promoter region and first (untranslated) exon of the
PROC 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.
Probemix content
The SALSA MLPA Probemix P265-B4 PROC contains 21 MLPA probes with amplification products between 135 and 310 nucleotides (nt). This includes ten probes for the
PROC gene, with one probe for all nine exons and two probes for exon 1. In addition, eleven reference probes are included which detect eleven different 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.