The SALSA MLPA
Probemix P440 F10 + F11 is a research use only (RUO)
assay for the detection of deletions or duplications in the F10
genes, which are associated with Rosenthal syndrome.
Factor X deficiency and Factor XI deficiency (Rosenthal syndrome) are two types of inherited autosomal recessive bleeding disorders characterised by haemorrhagic conditions of variable severity. Defects in the F10
gene on chromosome 13q34 are the main cause of Factor X deficiency. The vitamin K-dependent protein encoded by this gene is coagulation factor X. Defects in the F11
gene on chromosome 4q35.2 are the main cause of Factor XI deficiency. The protein encoded by this gene is coagulation factor XI.
The SALSA MLPA Probemix P440-A2 F10 + F11 contains 35 MLPA probes with amplification products between 166 and 454 nucleotides (nt). This includes nine probes for the F10
gene and 16 probes for the F11
gene, one probe for each exon and two probes for exon 1.
In addition, ten 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, 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