Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P151 ABCA4 mix-1 probemix - 50 reactions

SALSA MLPA P151 ABCA4 mix-1 probemix - 50 reactions

application: Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration
region: ABCA4 (ABCR) 1p22.1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P151-050R

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

Detailní popis SALSA MLPA P151 ABCA4 mix-1 probemix - 50 reactions

P151-050R SALSA MLPA P151 ABCA4 mix-1 probemix – 50 rxn

Defects in the ABCA4 gene can cause several different diseases, including Stargardt macular dystrophy, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus and macular degeneration age-related 2. The ABCA4 gene encodes an ATP-binding cassette (ABC) transporter. This transmembrane protein, expressed exclusively in retinal photoreceptors, is involved in energy-dependent transport of a wide spectrum of substrates across membranes.

The ABCA4 gene (50 exons) spans ~128 kb of genomic DNA and is located on chromosome 1p22.1, ~94.5 Mb from the p-telomere. The P151-B1 / P152-B2 probemixes contain one probe for each exon of the gene and two probes for exons 1 and 32. In addition, one flanking probe for the BCAR3 gene located downstream of ABCA4 on chromosome 1p has been included to aid determination of the extent of a deletion/duplication. Moreover, 12 and 14 reference probes are included in the P151-B1 and P152-B2 probemixes respectively, detecting several different autosomal chromosomal locations. 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).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences of 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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