The SALSA MLPA
Probemix P312 POR is a research use only (RUO)
assay for the detection of deletions or duplications in the POR
gene, which is associated with congenital adrenal hyperplasia (CAH) and Antley-Bixler syndrome.
gene encodes Cytochrome P450 Oxidoreductase, a membrane-bound enzyme that serves as an electron donor for all microsomal cytochrome P450 enzymes. Specific deficiencies in the POR
gene lead to clinical manifestations associated with CAH and Antley-Bixler syndrome.
In general, CAH is caused by deficiencies in cytochrome P450 (CYP) enzymes (e.g. CYP21A2) that are downstream in the electron transfer chain from POR
(see P050 under ‘related products’). Subsequently, POR
deficient CAH is caused by the indirect impairment of these CYP enzymes.
Antley-Bixler syndrome is associated with mutations in the FGFR2
related disease is also thought to be caused by the effect dysfunctional POR
has on downstream CYP enzymes (Krone et al. 2012).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1419/
The SALSA MLPA Probemix P312-B3 POR contains 29 MLPA probes with amplification products between 135 and 409 nucleotides (nt). This includes 16 probes for the POR
gene, one probe for each exon. Furthermore, this probemix also contains two flanking probes detecting two exons of the HSPB1
gene, which is located approximately 300kb downstream of POR
, in order to facilitate the determination of the extent of a deletion/duplication. In addition, eleven 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