SALSA MLPA P393 SLC26A3 probemix - 50 reactions

SALSA MLPA P393 SLC26A3 probemix - 50 reactions

application: Congenital Chloride Diarrhoea
region: SLC26A3 7q31.1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P393-050R

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

Detailní popis SALSA MLPA P393 SLC26A3 probemix - 50 reactions

Congenital chloride diarrhoea is an autosomal recessive form of severe chronic secretory-type diarrhoea, most frequent during the infantile period, characterized by dehydration and hypochloremic metabolic alkalosis. Defects in the SLC26A3 gene on chromosome 7q31 is one of the causes of congenital chloride diarrhoea. The protein encoded by this gene is SLC26A3, a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions, essential for intestinal chloride absorption.

The SLC26A3 gene (21 exons) spans ~37.8 kb of genomic DNA and is located on 7q31.1, 107 Mb from the p-telomere. The P393-A1 probemix contains one probe for each exon of the gene. The database of genomic variants mentions several copy number changes in this genomic region have been found in healthy individuals (see http://projects.tcag.ca/variation). 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 gene 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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