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SALSA MLPA Probemix P312 POR

Congenital adrenal hyperplasia (CAH); Cytochrome P450 oxidoreductase deficiency

Region: POR 7q11.23

General information: 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.

The POR 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 or POR gene. POR 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/.

Probemix content: 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P312-025R
SALSA MLPA Probemix P312 POR – 25 rxn
€ 243.00
P312-050R
SALSA MLPA Probemix P312 POR – 50 rxn
€ 486.00
P312-100R
SALSA MLPA Probemix P312 POR – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

SALSA MLPA Probemix P029 WBS

Contains probes that detect Williams-Beuren Syndrome causing deletions. These deletions have also been associated with reduced expression levels of several genes, including POR.

SALSA MLPA Probemix P050 CAH

Contains probes to detect other CAH related genes including CYP21A2 gene.

SALSA MLPA Probemix P128 CYP450

Contains probes for several Cytochrome P450 and Glutathione S-transferase genes.

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