SALSA MLPA P170 APP probemix - 50 reactions

SALSA MLPA P170 APP probemix - 50 reactions

application: Alzheimer disease, early-onset
region: APP 21q21.3 Detailní informace

Cena s DPH € 588.06
Cena bez DPH € 486.00
 50 react
Dostupnost Skladem
Kód produktu P170-050R

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

Detailní popis SALSA MLPA P170 APP probemix - 50 reactions

P170-050R SALSA MLPA P170 APP probemix – 50 rxn

Duplications in the APP gene result in accumulation of amyloid-β peptides in the parenchymal and vascular deposits and have been implicated in early-onset Alzheimer’s disease (EOAD) and cerebral amyloid angiopathy (CAA). The size of duplications can vary among patients, ranging from 0.58 to 6.37 Mb.

The APP gene (20 exons) spans ~290.3 kb of genomic DNA and is located on chromosome 21q21.3, ~27 Mb from the p-telomere. The P170-C1 probemix contains one probe for each APP exon including two probes for exon 2. Furthermore, it contains several probes for the 21q21 region. In addition, 9 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 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 (e.g. SNP) 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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