Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P424 CHD associated loci probemix - 50 reactions

SALSA MLPA P424 CHD associated loci probemix - 50 reactions

SALSA MLPA P424 CHD associated loci probemix - 50 reactions

Congenital Heart Disease.

region: 25 different regions Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P424-050R

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

Detailní popis SALSA MLPA P424 CHD associated loci probemix - 50 reactions

P424-025R SALSA MLPA P424 CHD associated loci probemix – 50 rxn

description
Recent studies have suggested that chromosomal deletions and duplications may be found in a proportion of patients with congenital heart disease (CHD). This P424-B2 MLPA probemix provides an assay for simultaneous analysis of deletions and duplications in 37 genomic regions which have previously been associated with CHD. The assay targets the genomic regions found in Table 2.
As described by Sorensen KM et al (2012) Am.J.Med.Genet., 14 rare CNVs were detected in 13 patients when blood derived DNA samples from 402 CHD patients were tested. Five CNVs were de novo: two 8p23.1 deletions, one 5q35.3 triplication, one 17p11.2 duplication and one 2p22.3 duplication. Six CNVs were inherited from a healthy parent.
This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the above mentioned chromosomal regions 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.

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