Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P235 Retinitis probemix - 100 reactions

SALSA MLPA P235 Retinitis probemix - 100 reactions

application: Retinitis Pigmentosa
region: RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P235-100R

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

Detailní popis SALSA MLPA P235 Retinitis probemix - 100 reactions

P235-025R SALSA MLPA P235 Retinitis probemix – 100 rxn

description
Retinitis pigmentosa (RP) 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.

The genes most frequently involved in RP are RHO, IMPDH1, RP1 and PRPF31. Rhodopsin (RHO) is a highly-specialized G protein-coupled receptor that detects photons in the rod photoreceptors of vertebrates. The RHO gene (5 exons) spans ~7 kb of genomic DNA and is located on 3q21.3. The P235-B1 probemix contains one probe for each exon.

Mutations in IMPDH1, a widely expressed rate-limiting enzyme of the de novo pathway of guanine nucleotide biosynthesis, have been shown to cause autosomal dominant RP. The IMPDH1 gene (17 exons) spans ~20 kb of genomic DNA and is located on chromosome 7q32. The P235-B1 probemix contains 9 probes for IMPDH1.

The gene for human oxygen regulated photoreceptor protein (RP1) encodes a protein that is localized in the connecting cilia of both rod and cone receptors. The RP1 protein is required for the morphogenesis of the outer segments of photoreceptor cells. The RP1 gene (4 exons) is located on chromosome 8q11.23. Mutations in RP1 cause at least 7% of autosomal dominant RP. The P235-B1 probemix contains two probes for exon 1 and one probe each for the other exons.

Finally, PRPF31 encodes a 61 kDA protein which is essential for splicing in all cell types. The pathologic effect of mutations in this gene can be seen in rod photoreceptor. The PRPF31 gene (14 exons) spans ~18 kb of genomic DNA and is located on chromosome 19q13.42. The P235-B1 probemix contains one probe for each exon (two probes for exon 1).

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 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test. 

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