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P482 DICER1

SALSA MLPA Probemix P482 DICER1 detects copy number variations in the DICER1 gene.

Specifications

Contents: 50 MLPA probes, including 31 probes for the DICER1 region.

Tissue: human genomic DNA, including DNA from FFPE tissue.

Application: research on DICER1 syndrome, and multinodular goiter-1 (MNG1).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P482 DICER1 is a research use only (RUO) assay for the detection of deletions or duplications in the DICER1 gene, which is associated with DICER1 syndrome.

DICER1 gene locates on 14q32.13 (hg18), consists of 27 exons and encodes cytoplasmic endoribonuclease (RNase) III enzyme. DICER1 has a central role in the RNA interference pathway, as it cleaves double-stranded RNA molecules into small RNAs including microRNA (miRNA) and small interfering RNA (siRNA). DICER1 facilitates the incorporation of these RNAs into Argonoute protein, forming the RNA-induced silencing complex (RISC). The activated RISC recognizes a specific mRNA target sequence and can either guide degradation or inhibit translation of the molecule.

DICER1 syndrome, or DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (OMIM 601200), is a rare pleiotropic tumour predisposition syndrome manifesting usually in children or young adults and it is characterised by benign and malignant tumours in lungs, ovaries, thyroid gland, kidneys and brain (pineal and pituitary glands). DICER1 syndrome is inherited in an autosomal dominant pattern, but may also arise de novo in the germline or in a somatic mosaic manner. It is estimated that 80% of the germline pathogenic variants are inherited from a parent and 20% are de novo (see GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK196157/). Most of the described mutations in DICER1 are loss-of-function point or frameshift mutations, however, deletions of the entire DICER1 locus and in- or out-of-frame intragenic DICER1 deletions have also been identified (for review see De Kock et al. 2019).

Multinodular goiter-1 (MNG1) with or without Sertoli-Leydig cell tumours (OMIM 138800) is also caused by heterozygous mutations in the DICER1 gene. Unlike DICER1 syndrome, MNG1 is a common disorder characterized by nodular enlargement of the thyroid gland and some individuals may also develop Sertoli-Leydig cell tumours, usually of the ovary.

Additionally, mutations in DICER1 are recurrent in diverse set of cancers e.g. in sporadic pleuropulmonary blastoma, gonadal-, Wilms' and endometrial tumours and anaplastic sarcomas of the kidney. Although miRNAs are required for normal cell fitness, selective inactivation of DICER1, especially mutations in the RNase IIIb domain affecting the metal ion-binding residues, can benefit cancer cells (Vedanayagam et al. 2019).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK196157/ and González et al. 2022.

Regulatory status

SALSA MLPA Probemix P482 DICER1 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
P482-025R
SALSA MLPA Probemix P482 DICER1 – 25 rxn
MLPA
€ 296.00
P482-050R
SALSA MLPA Probemix P482 DICER1 – 50 rxn
MLPA
€ 580.00
P482-100R
SALSA MLPA Probemix P482 DICER1 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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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