SALSA MLPA P379 NRXN1 probemix - 50 reactions

SALSA MLPA P379 NRXN1 probemix - 50 reactions

application: Pitt-Hopkins-like syndrome 2

region: NRXN1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P379-050R

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

Detailní popis SALSA MLPA P379 NRXN1 probemix - 50 reactions

P379-025R SALSA MLPA P379 NRXN1 probemix – 50 rxn

description
Pitt-Hopkins-like syndrome 2 is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation/overbreathing. Defects in the NRXN1 gene on chromosome 2p16.3 are the main cause. The protein encoded by this gene is neurexin 1. Neurexins, including NRXN1, are cell-surface receptors that bind neuroligins at synapses in the central nervous system. This transsynaptic complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts.

Copy number variations and mutations in the neurexin proteins were also found to be associated with neurodevelopmental disorders affecting cognition and behaviour (autism spectrum disorders, intellectual disability (mental retardation) and schizophrenia).

The NRXN1 gene (25 exons) spans ~1114 kb of genomic DNA and is located on 2p16.3, 50.1 Mb from the p-telomere. The P379-A1 probemix contains one probe for each exon of the gene. A second probe is included for exons: 1, 10, 19, 20, 21, 24 and 25. In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

Possible copy number changes of this genomic region in healthy individuals can be found in the database of genome variants (http://projects.tcag.ca/variation).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the NRXN1 gene 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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