The SALSA MLPA
Probemix P178 F8 is a research use only (RUO)
assay for the detection of deletions or duplications in the F8
gene, which is associated with haemophilia A.
Haemophilia A, one of the most common coagulation disorders, is caused by complete or partial deficiency in factor VIII clotting activity. It is an X-linked disease with a prevalence of ~1:5,000 live male births that is caused by mutations in the F8
gene encoding factor VIII.
gene is located on Xq28 and spans ~187 kb of genomic DNA. Deletions and duplications in the F8
gene are reported in up to ~5% of the haemophilia A patients (Kim et al. 2012; Lannoy et al. 2012; Vencesla et al. 2012). The most common genetic defects in the F8
gene are intron 22 inversions and intron 1 inversions, which occur in 43-45% and 2-5% of severe haemophilia A cases, respectively. These inversions cannot be detected by SALSA MLPA probemix P178 F8.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1404/
The SALSA MLPA Probemix P178-B4 F8 contains 43 MLPA probes with amplification products between 136 and 477 nucleotides (nt). This includes 33 probes for the F8
gene: one probe for each exon, two probes for exon 1, 3, 7, 12 and 26, and three probes for exon 14. In addition, ten reference probes are included that detect locations on the X-chromosome. 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