Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P242 Pancreatitis probemix - 100 reactions

SALSA MLPA P242 Pancreatitis probemix - 100 reactions

SALSA MLPA P242 Pancreatitis probemix - 100 reactions

application: Hereditary Pancreatitis (HP)
region: PRSS1 7q34, SPINK1 5q32 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P242-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P242 Pancreatitis probemix - 100 reactions

P242-025R SALSA MLPA P242 Pancreatitis probemix – 100 rxn

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-B2 Pancreatitis probemix contains probes for each of the 5 exons of the PRSS1 gene, including two probes for exon 1. Furthermore, it contains one probe for the PRSS2 gene which is located immediately next to PRSS1, and one upstream and two downstream probes on 7q34. In addition, the probemix contains four probes for the SPINK1 gene. Finally, it 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 area 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 area, 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.
 

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