SALSA MLPA P242 Pancreatitis probemix

application: Hereditary Pancreatitis (HP)
region: PRSS1 7q34, SPINK1 5q32
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version: B3
sold since: 2015-09-09

item no. description price
P242-025R SALSA MLPA P242 Pancreatitis probemix – 25 rxn € 237
P242-050R SALSA MLPA P242 Pancreatitis probemix – 50 rxn € 474
P242-100R SALSA MLPA P242 Pancreatitis probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
Hereditary Pancreatitis (HP) is a rare genetic condition characterised by recurrent episodes of pancreatic attacks, which can progress to chronic pancreatitis. Mutations in the genes encoding cationic trypsinogen (PRSS1) and the pancreatic secretory trypsin inhibitor (SPINK1) are associated with chronic pancreatitis.

The PRSS1 gene (5 exons) spans ~3.6 kb of genomic DNA and is located on chromosome 7q34, about 142 Mb from the p-telomere. The SPINK1 gene (4 exons) spans ~7.1 kb of genomic DNA and is located on chromosome 5q32, about 147 Mb from the p-telomere.

The P242-B3 Pancreatitis probemix contains probes for each exon of PRSS1, including two probes for exon 1. Furthermore, it contains one upstream and two downstream probes on 7q34. Four probes are included for the SPINK1 gene, detecting the first three exons and a region downstream of exon 4, no probe detecting exon 4 is included. Finally, probemix contains ten reference probes detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

related products
SALSA MLPA P091 CFTR probemix
Contains probes for the CFTR gene.

product history
version B3: One flanking probe has been removed and four reference probes have been replaced.
version B2: Compared to previous lot, three reference probes have been replaced and the control fragments have been adjusted (QDX2).
version B1: The PRSS2 probe at 165 nt has been removed because of its high standard deviation.

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