The SALSA MLPA
Probemix P469 F5 is a research use only (RUO)
assay for the detection of deletions or duplications in the F5
gene, which is associated with Factor V deficiency.
Mutations in the F5
gene have been found to cause a rare bleeding disorder called factor V deficiency. These mutations prevent the production of functional coagulation factor V or significantly reduce the amount of the protein in the bloodstream. People with this condition typically have less than 10 percent of normal levels of coagulation factor V in their blood; the most severely affected individuals have less than 1 percent. A reduced amount of functional factor V prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe. Factor V deficiency results from mutations in both copies of the F5
gene, although some people with a mutation in a single copy of the gene have mild bleeding problems. Heterozygous defects in the F5
gene are also associated with two- to threefold increase in relative risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption.
The SALSA MLPA Probemix P469-A1 F5 contains 35 MLPA probes with amplification products between 130 and 429 nucleotides (nt). This includes 26 probes for the F5
gene, one probe for each exon of the gene, with the exception of exon 2, and three probes for exon 25. 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.mlpa.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.mlpa.com