SALSA MLPA P092 ABCC6 probemix - 25 reactions

SALSA MLPA P092 ABCC6 probemix - 25 reactions

application: Pseudoxanthoma elasticum
region: ABCC6 16p13.1
  Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Skladem
Kód produktu P092-025R

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

Detailní popis SALSA MLPA P092 ABCC6 probemix - 25 reactions

P092-025R SALSA MLPA P092 ABCC6 probemix – 25 rxn

Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Defects in the ABCC6 gene on chromosome 16p13.11 cause PXE. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. The ABCC6 protein, a member of the MRP subfamily, is involved in multi-drug resistance.

The ABCC6 gene (31 exons) spans ~73.9 kb of genomic DNA and is located on 16p13.11, ~2.4 Mb from the p-telomere. The P092-B3 probemix contains one probe for each exon of the ABCC6 gene with the exception of exon 1, 3, 6, 16, 19, 20, 29 and 31, and three more probes for the nearby ABCC1, DECR2 and TSC2 genes are present. Possible copy number changes of this genomic region in healthy individuals can be found in the database of genome variants (http://projects.tcag.ca/variation).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more exons of the ABCC6 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. 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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