Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P318 Hirschsprung-2 probemix - 50 reactions

SALSA MLPA P318 Hirschsprung-2 probemix - 50 reactions

application: Hirschsprung disease
region: PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P318-050R

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

Detailní popis SALSA MLPA P318 Hirschsprung-2 probemix - 50 reactions

P318-025R SALSA MLPA P318 Hirschsprung-2 probemix – 50 rxn

description
Hirschsprung disease is the main cause of functional intestinal obstruction. This disorder is characterised by the absence of the enteric ganglia along a variable length of the intestine. Two types of Hirschsprung disease (MIM142623) have been described. The short-segment form accounts for 80% of the cases, while the long segment form accounts for the remaining 20%. Both forms can be caused by dominant mutations in the RET gene (P169 probemix), as well as by recessive mutations in several other genes.

This P318-A2 MLPA probemix has been designed to detect deletions and duplications of one or more exons of eight genes involved in Hirschsprung disease: PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN and SOX10.

* The SOX10 gene (4 exons) spans 12.2 kb of genomic DNA and is located on 22q13.1, 38 Mb from the p-telomere. This probemix contains one probe for each exon of the SOX10 gene (two probes for exon 4).
* The PSPN gene (2 exons) spans 0.6 kb of genomic DNA and is located on 19p13.3, 6 Mb from the p-telomere. This probemix contains one probe for each exon of the PSPN gene (two probes for exon 1).
* The NRTN gene (2 exons) spans 4.5 kb of genomic DNA and is located on 19p13.3, 6 Mb from the p-telomere. This probemix contains one probe for each exon of the NRTN gene (two probes for exon 2).
* The EDNRB gene (7 exons) spans 80.0 kb of genomic DNA and is located on 13q22.3, 78 Mb from the p-telomere. This probemix contains one probe for each exon of the EDNRB gene (two probes for exon 1 and 7), with the exception of exon 4.
* The GFRA1 gene (11 exons) spans 216.7 kb of genomic DNA and is located on 10q25.3, 118 Mb from the p-telomere. This probemix contains probes for exon 2, 3, 5, 6b, 8 and 10 of the GFRA1 gene.
* The GFRA2 gene (9 exons) spans 96.8 kb of genomic DNA and is located on 8p21.3, 21 Mb from the p-telomere. This probemix contains probes for exon 3, 4, 6, 7 and 9 of the GFRA2 gene.
* The GFRA3 gene (8 exons) spans 22.2 kb of genomic DNA and is located on 5q31.2, 138 Mb from the p-telomere. This probemix contains one probe for each exon of the GFRA3 gene with the exception of exon 1, 5 and 7.
* The PHOX2B gene (3 exons) spans 4.9 kb of genomic DNA and is located on 4p13, 42 Mb from the p-telomere. This probemix contains one probe for each exon of the PHOX2B gene.

The database of genomic variants mentions several copy number changes in this genomic region have been found in healthy individuals (see http://dgv.tcag.ca/dgv/app/home).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) 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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