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P419 CDKN2A/2B-CDK4

SALSA® MLPA® Probemix P419 CDKN2A/2B-CDK4 detects copy number variations in the CDKN2A, CDKN2B and CDK4 genes.

Specifications

Contents: 57 MLPA probes, including 14 probes for CDKN2A, 9 probes for CDKN2B, and 9 probes for CDK4. In addition, 1 probe for the MITF p.E318K (c.952G>A) point mutation and 1 probe for the wildtype sequence of CDK4 codon 24 are included.

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

Application: research on familial cutaneous melanoma, neural system tumour syndromes, and pancreatic cancer syndromes.

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

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Key related products

ME024 9p21 CDKN2A/2B region

Contains probes for detection of methylation and/or copy number status of the chromosomal region 9p21.3 (CDKN2A/2B, CDKN2B-AS1, MTAP, MIR31, and PAX5).

ME042 CIMP

Contains four probes for the detection of methylation status of the CDKN2A gene.

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General information

The SALSA MLPA Probemix P419 CDKN2A/2B-CDK4 is a research use only (RUO) assay for the detection of deletions or duplications in the CDKN2A, CDKN2B and CDK4 genes, which are associated with familial cutaneous melanoma, neural system tumour- and pancreatic cancer syndromes. This probemix can also be used to detect the presence of a MITF p.E318K (c.952G>A) point mutation and the status of codon 24 of the CDK4 gene with a WT probe.

Malignant melanoma is estimated to be hereditary in 5-10% of the cases. Familial cutaneous melanoma arises in an autosomal-dominant pattern within the affected families, and germline alterations in the CDKN2A gene (9p21.3) are detected in up to 40% of cases (Goldstein et al. 2007). The CDKN2A gene encodes for two proteins read in alternative reading frames, namely p16INK4A and p14ARF. The majority of CDKN2A mutations detected in familial melanoma patients affect exons 1 and 2, which code for p16INK4A. However, exon 1 mutations specific for p14ARF have also been reported (Hewitt et al. 2002), as well as larger genomic deletions of CDKN2A (Randerson-Moor et al. 2001; Knappskog et al. 2006; Lesueur et al. 2008). Moreover, both heterozygous and homozygous deletions harbouring both CDKN2A and CDKN2B are frequently detected in somatic melanoma samples (Flores et al. 1996).

Another high-penetrance, but low-frequency, melanoma susceptibility gene is CDK4 (12q14.1), which is mutated in 2% of the melanoma families (Goldstein et al. 2007). Two point mutations (p.R24H and p.R24K) of CDK4 have been detected in familial melanoma cases (Zuo et al. 1996). In addition, a germline mutation p.E318K (c.952G>A) in the MITF gene has been suggested to associate with predisposition to familial melanoma (Yokoyama et al. 2011; Bertolotto et al. 2011).

Regulatory status

SALSA MLPA Probemix P419 CDKN2A/2B-CDK4 is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD008 is an artificial DNA sample with a signal for all probes in the P419 CDKN2A/2B-CDK4 probemix. Inclusion of a reaction with SD008 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD008 is included with every order of the P419 CDKN2A/2B-CDK4 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P419-025R
SALSA MLPA Probemix P419 CDKN2A/2B-CDK4 – 25 rxn
MLPA
€ 286.00
P419-050R
SALSA MLPA Probemix P419 CDKN2A/2B-CDK4 – 50 rxn
MLPA
€ 560.00
P419-100R
SALSA MLPA Probemix P419 CDKN2A/2B-CDK4 – 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

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD008
SALSA Binning DNA SD008 – 6 rxn
MLPA
€ 24.15

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 have been tested with this product.

Resources

General MLPA resources

MLPA education

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