Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P114 Long-QT probemix - 100 reactions

SALSA MLPA P114 Long-QT probemix - 100 reactions

application: Congenital long QT syndrome (LQT)
region: KCNQ1 11p15.5, KCNH2 7q35 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P114-100R

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

Detailní popis SALSA MLPA P114 Long-QT probemix - 100 reactions

P114-100R SALSA MLPA P114 Long-QT probemix – 100 rxn

Congenital long QT (LQT) syndrome is electrocardiographically characterized by a  prolonged QT interval and polymorphic ventricular arrhythmias (torsades de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death. The most common causes of LQT syndrome are mutations in the genes KCNQ1 (LQT1), KCNH2 (LQT2), and SCN5A (LQT3).

The LQT1 form is caused by defects in the KCNQ1 gene. The KCNQ1 (=KvLQT1) gene has a total of 17 exons, spans 404 kb of chromosomal sequence and is located on chromosome 11p15.5 within the imprinted chromosomal region that is associated with Beckwith-Wiedemann syndrome, ~2,5 Mb from the p-telomere. Two alternative transcripts contain 16 exons each. The most predominant isoform (NM_000218) consists of all exons but lacks exon 2 while variant NM_181798 instead lacks exon 1. Mutations in KCNQ1 are not only associated with long QT syndrome but also with Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome and familial atrial fibrillation.
The LQT2 form is caused by defects in the KCNH2 (hERG) gene. Transcript variant 1 of this gene has 15 exons, spans 33 kb of chromosomal sequence and is located on chromosome 7q36.1, ~150 Mb from the p-telomere. The LQT3 form is linked to defects in the SCN5A gene, located on chromosome 3p22. Probes for the SCN5A gene are present in probemix P108.
The LQT5 and LQT6 forms are caused by KCNE1 (3 exons in the RefSeq sequence) and KCNE2 (2 exons), respectively, and are both located on chromosome 21q22 ~36 Mb from the p-telomere.

The P114-B2 probemix contains 17 probes for the KCNQ1 gene and 16 probes for the KCNH2 gene. Four probes for the KCNE1 gene are included, as well as two probes for KCNE2. In addition, nine reference probes are included in this probemix, 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.

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