SALSA MLPA P017 MEN1 probemix - 50 reactions

SALSA MLPA P017 MEN1 probemix - 50 reactions

application: Multiple endocrine neoplasia
region: MEN1 11q13
  Detailní informace

Cena s DPH € 588.06
Cena bez DPH € 486.00
 50 react
Dostupnost Skladem
Kód produktu P017-050R

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

Detailní popis SALSA MLPA P017 MEN1 probemix - 50 reactions

P017-050R SALSA MLPA P017 MEN1 probemix – 50 rxn

Multiple endocrine neoplasia (MEN) is an autosomal dominant disorder characterised by a high frequency of peptic ulcer disease and primary endocrine abnormalities involving the pituitary, parathyroid and pancreas. Type 1 MEN is the result of defects in the Menin protein that is encoded by the MEN1 gene.

MEN1 is a relatively small gene containing 11 exons (exon 1b is only present in one transcript variant) in a ~7.2 kb chromosomal region on chromosome 11q13, 64.6 Mb from the p-telomere. The loss of heterozygosity (LOH) that is frequently observed in MEN1 tumours suggests that MEN1 acts as a tumour suppressor gene, as postulated by the Knudson 2-hit hypothesis. Besides point mutations, several deletions involving one or more complete exons in the MEN1 gene have been described.

This P017-C1 MEN1 probemix contains probes for each exon of the MEN1 gene and two probes for exons 2b, 7 and 10. In addition, it contains two probes for sequences at a close distance to MEN1, as well as 10 reference probes, 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(s) 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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