SALSA MLPA P330 PCDH19 probemix - 50 reactions

application: Epilepsy (EFMR)
region: PCDH1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P330-050R

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Detailní popis SALSA MLPA P330 PCDH19 probemix - 50 reactions

P330-025R SALSA MLPA P330 PCDH19 probemix – 50 rxn

Defects in the gene encoding protocadherin-19 (PCDH19) have been associated with early infantile epileptic encephalopathy-9 (EFMR), better known as epilepsy female-restricted with mental retardation (EFMR) (Dibbens et al., Nat Genet. 2008 Jun;40(6):776-81). EFMR is characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.

PCDH19 is subject to X-chromosome inactivation, which leads to a homogeneous population of cells negative for PCDH19 in males and in a heterogeneous population of PCDH19 wild-type and negative cells in females. It has been proposed by Dibbens et al. that this tissue mosaicism in females affects the communication between cells, resulting in EFMR. This hypothesis has been supported by Depienne et al. (PLoS Genet. 2009 Feb;5(2):e1000381). They reported a somatic mosaic for a deletion encompassing the PCDH19 gene in a male, who showed a phenotype similar to EFMR.

The PCDH19 gene (6 exons) spans ~118 kb of genomic DNA and is located on Xq22.1, 99.6 Mb from the p-telomere. The P330-A1 probemix contains two or more probes for each exon of the gene. No probes for exon 2 have been included. Possible copy number changes of this genomic region in healthy individuals can be found in the database of genome variants (

This probemix furthermore contains several probes for conserved regions upstream and downstream of PCDH19. In addition, 9 reference probes are included in this probemix, detecting several different X chromosomal locations.

This SALSA® MLPA® kit is designed to detect copy number changes of one or more sequences in the above mentioned genes and chromosomal regions 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 area. 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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