Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P243 SERPING1 probemix - 50 reactions

SALSA MLPA P243 SERPING1 probemix - 50 reactions

application: Hereditary angioedema (HAE)
region: SERPING1 11q12.1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P243-050R

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

Detailní popis SALSA MLPA P243 SERPING1 probemix - 50 reactions

P243-025R SALSA MLPA P243 SERPING1 probemix – 50 rxn

description
Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema involving the upper respiratory and gastrointestinal tracts. Defects in the SERPING1 gene on chromosome 11q12.1 are the main cause of the disorder. This gene encodes the C1 esterase inhibitor protein (C1NH), which inhibits activated C1r and C1s of the first complement component and thus regulates complement activation.
In type I hereditary angioedema, representing 85% of patients, serum levels of C1NH are less than 35% of normal. In type II, the levels are normal or elevated, but the protein is nonfunctional. These two types are clinically indistinguishable.

The SERPING1 gene (8 exons), spans ~17.3 kb of genomic DNA and is located on chromosome 11q12.1, about 57 Mb from the p-telomere. Most individuals with hereditary angioedema have point mutations in the SERPING1 gene, which will not be detected by the MLPA technique. However, in about 20% of affected individuals, deletions and occasionally duplications of (part of) the SERPING1 gene have been found responsible for the disorder (Carter et al., Eur J Biochem. 197:301-8; Stoppa-Lyonnet et al., Proc Natl Acad Sci U S A. 87:1551-5).

This P243-A3 SERPING1 probemix contains probes for each of the SERPING1 exons and 1 flanking probe for APLNR, located approximately 364 kb upstream of SERPING1. In addition, it contains eight reference probes detecting different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene 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
 

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