Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P366 CHM-RP2 RPGR probemix - 100 reactions

SALSA MLPA P366 CHM-RP2 RPGR probemix - 100 reactions

SALSA MLPA P366 CHM-RP2 RPGR probemix - 100 reactions

application: Retinitis pigmentosa (RP)

region: CHM-RP2-RPGR Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P366-100R

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

Detailní popis SALSA MLPA P366 CHM-RP2 RPGR probemix - 100 reactions

P366-025R SALSA MLPA P366 CHM-RP2-RPGR probemix – 100 rxn

description
Retinitis pigmentosa (RP) (prevalence 1/4000) is a hereditary degenerative disease of the photoreceptor neurons of the retina. RP is characterized by progressive degeneration of the peripheral retina (leading to night blindness), loss of the peripheral visual field and an abnormal electroretinogram.
X-linked Retinitis Pigmentosa (xlRP) accounts for 5-15% of all RP syndromes. Mutations in the RPGR (also called RP3) and RP2 genes are the most common causes of xlRP, responsible for 70-90% and 10-20% of the xlRP cases, respectively.

Choroideremia is another X-linked recessive retinal degeneration disease which could be confused with X-linked retinitis pigmentosa. Choroideremia is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina. This progressive X-linked retinopathy is caused by the deletion of CHM which encodes for the Rab escort protein1 (REP1). REP1 is involved in the prenylation of Rabs. Under-prenylation of Rabs could affect vesicular trafficking, exocytosis and secretion in peripheral cells of CHM patients.

The RPGR gene (15 exons) spans ~43.1 kb of genomic DNA and is located on Xp11.4, 38 Mb from the p-telomere. The P366-A2 probemix contains one probe for each exon of this gene.
The RP2 gene (5 exons) spans ~45.4 kb of genomic DNA and is located on Xp11.3, 47 Mb from the p-telomere. The P366-A2 probemix contains one probe for each exon of the gene.
The CHM gene (15 exons) spans ~186.4 kb of genomic DNA and is located on Xq21.2, 85 Mb from the p-telomere. The P366-A2 probemix contains one probe for each exon of CHM. In addition, 9 reference probes are included in this probemix, detecting several other X-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. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35-50% reduction in relative peak height. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, 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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