SALSA MLPA P311 CHD probemix - 100 reactions

SALSA MLPA P311 CHD probemix - 100 reactions

Congenital Heart Disease (CHD)
region: GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25. Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P311-100R

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

Detailní popis SALSA MLPA P311 CHD probemix - 100 reactions

P311-025R SALSA MLPA P311 Congenital Heart Disease probemix – 100 rxn

description
Congenital heart disease (CHD) is a common birth defect, of which ventricular septal defects are collectively the most common type. Abnormal cardiac development originates from both environmental and genetic factors. Multiple studies postulate that mutations in several genes could be implicated in CHD. The transcription factor GATA4 forms a complex with TBX5 which interacts with a heart muscle protein, α-myosin heavy chain. Another factor, the homeobox (developmental) gene, NKX2-5 also interacts with MYH6. Mutations of all these proteins are associated with both atrial and ventricular septal defects. In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt-Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb (Srivastava, D., 2006, Cell). Atrioventricular septal defect (AVSD) can also be caused by mutation in the gene encoding cell adhesion molecule CRELD1. Bone morphogenetic protein 4 (BMP4) was shown to have a critical role in functional heart formation in model animals; the loss of this protein resulted in various developmental defects (McCulley, D. J. et al., 2008, Dev Dyn).

The GATA4 gene (7 exons) spans ~55.8 kb of genomic DNA and is located on chromosome 8p23, ~11.6 Mb from p-telomere. Probes for each of the 7 exons of GATA4 and two probes upstream and downstream of the gene are included in the P311-A2 probemix.
The NKX2-5 gene (2 exons) spans ~3.2 kb of genomic DNA and is located on chromosome 5q35, ~172.5 Mb from p-telomere. For each exon, two probes are included.
The TBX5 gene (10 exons) spans ~52.2 kb of genomic DNA and is located on chromosome 12q24, ~113.3 Mb from p-telomere. Probes for 8 of the 10 exons are included, with two probes for exon 9 and 10.
The BMP4 gene (5 exons) spans ~4.8 kb of genomic DNA and is located on chromosome 14q22, ~53.5 Mb from p-telomere. Probes for 4 of the 5 exons of BMP4 are included.
The CRELD1 gene (11 exons) spans ~11.6 kb of genomic DNA and is located on chromosome 3p25, ~10 Mb from p-telomere. Probes for exons 3 and 10 are included.

This probemix furthermore contains 3 probes for chromosome region 22q11 (DiGeorge). In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® kit 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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