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P492 POLD1 - POLE

SALSA MLPA Probemix P492 POLD1 - POLE detects copy number variations in the POLD1 and POLE genes.

Specifications

Contents: 41 MLPA probes, including 25 probes for POLD1, and 6 probes for POLE of which 1 detects the wild-type sequence of the c.1270C>G (p.Leu424Val) mutation.

Tissue: human genomic DNA.

Application: research on susceptibility to colorectal cancer.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P492 POLD1 - POLE is a research use only (RUO) assay for the detection of deletions or duplications in the POLD1 and POLE genes, which are associated with susceptibility to colorectal cancer. This probemix can also be used to specifically detect the wild-type sequence of the POLE c.1270C>G (p.Leu424Val) point mutation.

Susceptibility to colorectal cancer-10 (OMIM #612591) and susceptibility to colorectal cancer-12 (OMIM #615083) are autosomal dominant disorders conferred by mutations in the POLD1 and POLE genes, respectively. Patients show a predisposition to colorectal cancer, with onset at adult age but usually before the age of 40. Brain tumours and endometrial cancer have also been found in POLD1 and POLE mutation carriers. The human POLD1 and POLE genes encode subunits of the polymerase delta (POLδ) and polymerase epsilon (POLε) enzyme complexes, respectively. POLε is responsible for synthesis of the leading strand during DNA replication and POLδ is its equivalent lagging strand polymerase. Besides synthesis, these enzyme complexes also have proof-reading capacity via mismatch and base excision repair pathways. Mutations in POLD1 and POLE have been suggested to cause tumorigenesis due to decreased fidelity of polymerase proof-reading, leading to an increased mutation rate (Palles et al. 2013). The POLE c.1270C>G (p.Leu424Val) point mutation affects a highly conserved residue in the POLE proofreading domain and has been identified in different families with early-onset colorectal cancer (PMIDs 23447401, 24509466, 24501277, 25529843, 25124163 and 25370038).

The POLD1 gene (27 exons) spans ~34 kb of genomic DNA and is located on 19q13.33, about 56 Mb from the p-telomere. The POLE gene (49 exons) spans ~64 kb of genomic DNA and is located on 12q24.33, about 132 Mb from the p-telomere (close to the q-telomere).

Regulatory status

SALSA MLPA Probemix P492 POLD1 - POLE 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
P492-025R
SALSA MLPA Probemix P492 POLD1 - POLE – 25 rxn
MLPA
€ 286.00
P492-050R
SALSA MLPA Probemix P492 POLD1 - POLE – 50 rxn
MLPA
€ 560.00
P492-100R
SALSA MLPA Probemix P492 POLD1 - POLE – 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.

The commercially available positive samples below can be used with the current (A1) version of this product.

Resources

General MLPA resources

MLPA education

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