SALSA MLPA P067 PTCH probemix - 100 reactions

SALSA MLPA P067 PTCH probemix - 100 reactions

application: Gorlin syndrome
region: PTCH 9q22.3
  Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P067-100R

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

Detailní popis SALSA MLPA P067 PTCH probemix - 100 reactions

P067-100R SALSA MLPA P067 PTCH probemix – 100 rxn

Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant disease characterized by developmental abnormalities and a  predisposition to cancers. Defects in the PTCH tumour suppressor gene is the main cause of the Gorlin syndrome. The protein encoded by this gene is the Sonic Hedgehog receptor.

The PTCH1 gene (28 exons) spans 65 kb of genomic DNA and is located on 9q22.3, 96 Mb from the p-telomere. 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).

The P067-A2 probemix contains 23 probes for the PTCH1 gene and one flanking probe upstream present in the FANCC gene. In addition, 12 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 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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