SALSA MLPA P339 SHANK3 probemix - 50 reactions

Autism Spectrum Disorder.

region: SHANK3 22q13.33 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P339-050R

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Detailní popis SALSA MLPA P339 SHANK3 probemix - 50 reactions

P339-025R SALSA MLPA P339 SHANK3 probemix – 50 rxn

SHANK3 is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signalling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in SHANK3 are a cause of autism spectrum disorder (ASD) which is characterised by impairments in social interaction and communication, and restricted behavioural patterns and interests. Mutations in SHANK3 are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome. The SHANK3 gene (23 exons) spans ~59 kb of genomic DNA and is located on 22q13.33, 51 Mb from the p-telomere. The P339-A1 probemix contains one probe for each exon of the gene and two or more probes for exons 5, 8, 10 and exons 19-23. The database of genomic variants mentions several copy number changes in this genomic region have been found in healthy individuals (see This probemix furthermore contains five flanking probes for the 22q13.33 region. In addition, 9 reference probes are included in this probemix, detecting 9 different autosomal chromosomal locations. The P339-A1 kit also contains a salt-sensitive reference probe. Since all SHANK3 probes are extremely sensitive to high salt concentrations (with the probes for exons 10-18 being exceptionally sensitive), we included this extra probe to warn for a high salt concentration. When this probe (also) generates a reduced signal, one should be careful when examining results. 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 this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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