PLP1 probemix

PLP1 probemix

application: Pelizaeus-Merzbacher disease (PMD)
region: PLP1 Xq22
  Detailní informace

Cena s DPH € 294.03
Cena bez DPH € 243.00
 25 reakcí
Dostupnost Skladem
Kód produktu P022 -025R

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

Detailní popis PLP1 probemix

P022 -025R SALSA MLPA P022 PLP1 probemix – 25 rxn

PLP1 gene mutations cause X-linked Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2. PMD (MIM#312080) is a rare X-linked recessive neurodegenerative disorder due to dysmyelination of the central nerve system. The PLP1 gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival.

Copy number variations and point mutations of the PLP1 gene have been found in 70% and 10-25% of all patients with PMD, respectively, with a  wide clinical spectrum. Complete duplication of the PLP1 gene on Xq22.2 can be found in up to 60-70% of the PMD cases, whereas deletions of this gene as well as point mutations in coding or splice site regions are involved in the majority of the remaining cases. Carrier females with PLP1 gene duplication are usually asymptomatic.

The PLP1 gene (8 exons), spans ~16 kb of genomic DNA and is located on chromosome Xq22.2. The P022-B2 PLP1 probemix contains one probe for each exon of the PLP1 gene, with the exception of exon 1. Furthermore, it contains 20 flanking MLPA probes (20 different regions) for the Xq22.2 region according to Shimojima, K et al. (2010). In this study new mutations and variable sizes of duplications were found in patients with PMD. Also, 10 reference probes have been added on other parts of the X  chromosome.

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