SALSA MLPA P328 EYS probemix - 50 reactions

SALSA MLPA P328 EYS probemix - 50 reactions

Retinitis Pigmentosa.

region: EYS 6q12 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P328-050R

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Detailní popis SALSA MLPA P328 EYS probemix - 50 reactions

P328-025R SALSA MLPA P328 EYS probemix – 50 rxn

Retinitis pigmentosa (RP25) is characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss.
The gene EYS (Eyes shut homolog) at the Retinitis Pigmentosa, RP25, locus on chromosome 6q12 encodes the protein SPAM and is commonly mutated in autosomal recessive retinitis pigmentosa.
The EYS gene (44 exons) spans ~2 Mb of genomic DNA and is located on chromosome 6q12, ~65 Mb from the p-telomere. The P328-A1 probemix contains one probe for each exon of the gene except for exon 9. Additionally the probmix includes an extra probe for exon 29. In addition, one mutation and one deletion specific probe are present in P328. For the relevance for retinitis pigmentosa of these mutation specific probes, we refer to the article of Abd El-Aziz M.M. et al (Nat Genet 2000 40(11): 1285-87). Furthermore, 8 reference probes are included in this probemix, detecting several different autosomal chromosomal locations. The database of genomic variants mentions several copy number changes in this genomic region that have been found in healthy individuals (see

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene and to detect the presence of the aforementioned point mutations 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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