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P495 CYP11A1-CYP11B1-CYP11B2

SALSA MLPA Probemix P495 CYP11A1-CYP11B1-CYP11B2 detects copy number variations in the CYP11A1, CYP11B1 and CYP11B2 genes.

Specifications

Contents: 38 MLPA probes, including 10 probes for CYP11A1, 9 probes for CYP11B1, and 9 probes for CYP11B2.

Tissue: human genomic DNA.

Application: research on renal insufficiency, congenital adrenal hyperplasia (CAH), and aldosteronism.

For research use only (RUO). Not for use in diagnostics.

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Key related products

P050 CAH

Targets CYP21A2, involved in congenital adrenal hyperplasia (CAH).

P312 POR

Targets POR, involved in congenital adrenal hyperplasia (CAH) and Antley-Bixler syndrome.

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General information

The SALSA MLPA Probemix P495 CYP11A1-CYP11B1-CYP11B2 is a research use only (RUO) assay for the detection of deletions or duplications in the CYP11A1, CYP11B1 and CYP11B2 genes, which are associated with renal insufficiency, congenital adrenal hyperplasia and aldosteronism.

Cytochrome P450 family 11 genes CYP11A1, CYP11B1 and CYP11B2 encode enzymes which are involved in steroid biosynthesis in the mitochondria of the adrenal cortex. Steroid biosynthesis starts with the conversion of cholesterol into pregnenolone, which is catalysed by the cholesterol side-chain cleavage enzyme, also known as desmolase, encoded by CYP11A1. CYP11A1 disruption causes a block in all aspects of adrenal and gonadal steroid synthesis, leading to congenital adrenal insufficiency (Buonocore F and Achermann JC 2020; OMIM #613743). CYP11B1 encodes 11β-hydroxylase, which catalyses the conversion of 11-deoxycortisol to cortisol and the conversion of 11-deoxycorticosterone to corticosterone amongst others. A deficiency of 11β-hydroxylase causes autosomal recessive disorder 11β-hydroxylase-deficient congenital adrenal hyperplasia, 11-OHD CAH (OMIM #202010; 5-8% of CAH cases). This is the second most common form of CAH after (CYP21A2 related) 21-OHD CAH which accounts for ~90% of CAH cases. CAH involves a decreased synthesis of cortisol and corticosterone and an accumulation of their precursors, which leads to androgen excess and hypertension.

CYP11B1 and CYP11B2 share ~95% sequence homology and are located in close proximity (~31 kb) on chromosome 8q. CYP11B2 encodes aldosterone synthase, which is involved in the synthesis of aldosterone. Aldosterone synthase deficiency is inherited in an autosomal recessive manner and usually presents with salt wasting, hyperkalaemia and hypotension (Hui et al. 2014). Recombination of CYP11B1 and CYP11B2 by unequal crossing over between these highly homologous genes and their regulatory elements have been reported. On the allele lacking the normal copies of CYP11B1 and CYP11B2, the CYP11B chimeric gene results in CYP11B2 being regulated by adrenocorticotropic hormone (ACTH), which normally controls expression of CYP11B1. This chimeric variant can lead to autosomal recessive 11β-hydroxylase deficiency or aldosterone synthase deficiency (Portrat et al. 2001). On the duplication allele, a complementary chimeric CYP11B gene results in CYP11B1 being regulated by angiotensin II and potassium, which normally control expression of CYP11B2. This can cause amongst others autosomal dominant glucocorticoid-remediable aldosteronism (GRA) or hyperaldosteronism (Lifton et al. 1992; Menabò et al. 2016; OMIM #103900).

The CYP11A1 gene (9 exons) spans ~30 kb of genomic DNA and is located on 15q24.1, about 72 Mb from the p-telomere. The CYP11B1 and CYP11B2 genes (9 exons each) span ~7.5 kb and ~7.3 kb of genomic DNA, respectively, and are located on 8q24.3, about 144 Mb from the p-telomere (close to the q-telomere).

Regulatory status

SALSA MLPA Probemix P495 CYP11A1-CYP11B1-CYP11B2 is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P495-025R
SALSA MLPA Probemix P495 CYP11A1-CYP11B1-CYP11B2 – 25 rxn
MLPA
€ 286.00
P495-050R
SALSA MLPA Probemix P495 CYP11A1-CYP11B1-CYP11B2 – 50 rxn
MLPA
€ 560.00
P495-100R
SALSA MLPA Probemix P495 CYP11A1-CYP11B1-CYP11B2 – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

See this support article for commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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