SALSA MLPA P311 Congenital Heart Disease probemix

application: Congenital Heart Disease (CHD)
region: GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25
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version: B1
sold since: 2016-08-08

item no. description price
P311-025R SALSA MLPA P311 Congenital Heart Disease probemix – 25 rxn € 237
P311-050R SALSA MLPA P311 Congenital Heart Disease probemix – 50 rxn € 474
P311-100R SALSA MLPA P311 Congenital Heart Disease probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

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. Atrioventricular septal defect (AVSD) can also be caused by mutations 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.

The GATA4 gene (7 exons) spans ~55.8 kb of genomic DNA and is located on chromosome 8p23, ~11.7 Mb from p-telomere. Probes for each of the 7 exons of GATA4, with the exception of exon 2, and two probes upstream and one downstream of the gene are included in the P311 probemix.
The NKX2-5 gene (2 exons) spans ~3.2 kb of genomic DNA and is located on chromosome 5q35, ~173.2 Mb from p-telomere. For each exon, two probes are included.
The TBX5 gene (9 exons) spans ~54.5 kb of genomic DNA and is located on chromosome 12q24, ~114.3 Mb from p-telomere. Probes for 7 of the 9 exons are included, with two probes for exon 9 and 10.
The BMP4 gene (4 exons) spans ~7.1 kb of genomic DNA and is located on chromosome 14q22, ~54 Mb from p-telomere. Probes for 3 of the 4 exons of BMP4 are included.
The CRELD1 gene (12 exons) spans ~11.6 kb of genomic DNA and is located on chromosome 3p25, ~10 Mb from p-telomere. Probes for exons 4 and 11 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® 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.

product history
version B1: One target and one flanking probe have been removed and two reference probes have been replaced.
version A2: QDX2 fragments have been added and one CRELD1 probe has been removed
version A1: changes not specified

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