SALSA MLPA P326 LARGE probemix - 50 reactions

SALSA MLPA P326 LARGE probemix - 50 reactions

Walker-Warburg Syndrome.

region: LARGE, FKTN, POMT2 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P326-050R

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

Detailní popis SALSA MLPA P326 LARGE probemix - 50 reactions

P326-025R SALSA MLPA P326 LARGE, FKTN, POMT2 probemix – 50 rxn

description
Walker-Warburg syndrome, a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities, is associated with defects in among others the LARGE, FKTN and POMT2 genes on chromosome 22, 9 and 14, respectively.

The LARGE gene (16 exons) spans ~647 kb of genomic DNA and is located at chromosome 22q12.3, ~34 Mb from the p-telomere. This probemix contains two probes for every exon, with the exception of exons 6, 7, 9, 13 and 14, which are only detected by one probe. Also, one probe located upstream of the LARGE gene is included.
The FKTN gene (11 exons) spans ~83 kb of genomic DNA and is located at chromosome 9q31-q33, ~108 Mb from the p-telomere. This probemix contains probes for exon 1, 4, 6, 7, 8 and 11.
The POMT2 gene (21 exons) spans ~46 kb of genomic DNA and is located at chromosome 14q24.3, ~78 Mb from the p-telomere. This probemix contains probes for exon 1, 3, 4, 6, 8, 12, 15, 18 and 21.
In addition, nine reference probes are included detecting several autosomal 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 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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