SALSA MLPA Probemix P112 PROS1 detects copy number variations in the PROS1 gene.
Contents: 26 MLPA probes, including 13 probes for PROS1, and 1 probe for PROSP (PROS2 or PROS2P).
Tissue: human genomic DNA.
Application: research on hereditary protein S deficiency.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P112 PROS1 is a research use only (RUO) assay for the detection of deletions or duplications in the PROS1 gene, which is associated with hereditary protein S deficiency.
Protein S is a vitamin K-dependent glycoprotein that regulates blood coagulation (Ten Kate et al. 2008). It functions as a non-enzymatic cofactor for activated protein C (APC) in the proteolytic degradation of activated factor V and VIII, resulting in the inhibition of blood coagulation. Protein S circulates in plasma in two forms, a free form and a bound form in complex with C4b-binding protein (Ten Kate et al. 2008). Although both forms can act as cofactors, bound protein S is less effective than free protein S.
Hereditary protein S deficiency is an autosomal dominant disorder associated with an increased risk for venous thrombosis. In fact, while the prevalence of protein S deficiency is 0.2% in the general population, it is about 2% for patients with venous thrombosis (Ten Kate et al. 2008). There are three types of protein S deficiency that can be distinguished based on APC cofactor activity, total protein S and free protein S levels (Ten Kate et al. 2008). Type I is characterized by low levels of both total and free protein S and reduced APC cofactor activity. Type II shows normal levels of free and total protein S, but a reduced APC cofactor activity. Type III deficiency is characterized by normal total protein S levels and reduced free protein S and APC cofactor activity. Large deletions/duplications within the PROS1 locus have been identified as a relatively common cause of protein S deficiency (Pintao et al. 2009).
SALSA MLPA Probemix P112 PROS1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.