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P242 Pancreatitis

SALSA MLPA Probemix P242 Pancreatitis detects copy number variations in the CTRC, SPINK1, PRSS1 and PRSS2 genes.

Specifications

Contents: 41 MLPA probes, including 8 probes for CTRC, 4 probes for SPINK1, 6 probes for PRSS1, 2 probes for PRSS2, 3 probes for TRD-AS1, and probes for SPINK1 c.101A>G (p.N34S), PRSS1 c.86A>T (p.N29I), and PRSS1 c.365G>A (p.R122H).

Tissue: human genomic DNA.

Application: research on hereditary pancreatitis.

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

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List Prices Documentation

Key related products

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General information

SALSA MLPA Probemix P242 Pancreatitis is a research use only (RUO) assay for the detection of deletions, duplications or genomic rearrangements in the CTRC, SPINK1, PRSS1 and PRSS2 genes, which are associated with hereditary pancreatitis. This probemix includes probes for the TRD-AS1 gene as an aid to interpret PRSS1 and PRSS2 copy numbers when larger regions are affected (see Appendix 1). This probemix also detects the presence of the SPINK1 p.N34S (c.101A>G), PRSS1 p.N29I (c.86A>T) and PRSS1 p.R122H (c.365G>A) point mutations.

Hereditary Pancreatitis (HP; OMIM # 167800) is characterised by recurrent episodes of inflammation of the pancreas that progress to chronic pancreatitis. HP has an autosomal dominant pattern of inheritance and is defined by two or more individuals with pancreatitis in two or more generations of a family, or pancreatitis associated with a known germline pathogenic variant.

PRSS1 encodes trypsin-1 (cationic trypsinogen), a major pancreatic digestive serine peptidase enzyme, which is produced and secreted by the pancreas. PRSS1 pathogenic variants typically result in a trypsin protein that is either prematurely activated, while it is still in the pancreas, or resistant to degradation. Duplication of PRSS1, leading to an increase of the protein, also causes HP. Duplication and triplication of a ~605-kb segment containing PRSS1 and PRSS2 have been described (Chauvin et al. 2009). Furthermore, gene conversion between PRSS1 and PRSS2 has been reported (Nemeth and Sahin-Tóth 2014, Rygiel et al. 2015). In 90% of the cases, hereditary pancreatitis is caused by two point mutations in the PRSS1 gene, R122H (~65%) and N29I (~25%) (Nemeth and Sahin-Tóth 2014). Gene conversion between PRSS1 and PRSS2 exon 2 and intron 2 can occur, resulting in the N29I mutation together with N54S, a non-pathogenic mutation (Teich et al. 2005). Masson et al. (2008a) identified a hybrid PRSS1/PRSS2 duplication in which exons 1 and 2 were derived from PRSS2 and exons 3 to 5 from PRSS1, which also contained the PRSS1 N29I mutation. In less than 6% of the cases, HP is caused by PRSS1 (large) deletions/duplications.

SPINK1 encodes the serine protease inhibitor Kazal-type 1. Pathogenic variants in SPINK1 are associated with increased risk of pancreatitis and have been identified in approximately 20% of families with hereditary pancreatitis, without a PRSS1 germline pathogenic variant. The risk for developing acute pancreatitis is highly increased when the N34S mutation in SPINK1 is present (Koziel et al. 2015).

CTRC encodes chymotrypsin C (CTRC), a low-abundance pancreatic digestive enzyme that is synthetized with PRSS1. CTRC is important for the degradation of the prematurely activated trypsin within the pancreas. Pathogenic variants of CTRC have been associated with chronic pancreatitis (Masson et al. 2008b).

While identification of a heterozygous PRSS1 pathogenic variant confirms a diagnosis of hereditary pancreatitis, the presence of isolated pathogenic variants in the SPINK1 or CTRC genes is insufficient to cause pancreatitis (Masson et al. 2013).

The CTRC gene (8 exons) spans ~11 kb of genomic DNA and is located on 1p36.21, about 15 Mb from the p-telomere. The SPINK1 gene (4 exons) spans ~7.1 kb of genomic DNA and is located on 5q32, about 148 Mb from the p-telomere. The PRSS1 gene (5 exons) spans ~3.6 kb of genomic DNA and is located on 7q34, about 143 Mb from the p-telomere. The PRSS2 gene (5 exons) spans ~3.6 kb of genomic DNA and is located on 7q34, about 143 Mb from the p-telomere. The TRD-AS1 gene (5 exons) spans ~104 kb of genomic DNA and is located on 14q11.2, about 22 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK190101 and https://www.ncbi.nlm.nih.gov/books/NBK84399.

Regulatory status

SALSA MLPA Probemix P242 Pancreatitis is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD099 is an artificial DNA sample with a signal for all probes in the P242 Pancreatitis probemix. Inclusion of a reaction with SD099 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 SD099 is included with every order of the P242 Pancreatitis probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version D1

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P242-025R
SALSA MLPA Probemix P242 Pancreatitis – 25 rxn
MLPA
€ 286.00
P242-050R
SALSA MLPA Probemix P242 Pancreatitis – 50 rxn
MLPA
€ 560.00
P242-100R
SALSA MLPA Probemix P242 Pancreatitis – 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
SD099
SALSA Binning DNA SD099 – 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.

The commercially available positive samples below can be used with the current (D1) version of this product.

Resources

General MLPA resources

MLPA education

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