Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P410 GGRIN2A GRIN2B probemix - 100 reactions

SALSA MLPA P410 GGRIN2A GRIN2B probemix - 100 reactions

SALSA MLPA P410 GGRIN2A GRIN2B probemix - 100 reactions

epilepsy, mental retardation,

region: 16p13.2 GRIN2A, 12p13.1 GRIN2B Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P410-100R

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

Detailní popis SALSA MLPA P410 GGRIN2A GRIN2B probemix - 100 reactions

P410-025R SALSA MLPA P410 GRIN2A GRIN2B probemix – 100 rxn

description
N-methyl-D-aspartate (NMDA) receptors are glutamate-activated ion channels found at excitatory synapses throughout the brain. They play an important role in various processes in the brain such as excitatory neurotransmission and synaptic plasticity. NMDA receptors are composed of multiple subunits including at least one NR1 subunit, one or more NR2 subunits and occasionally an NR3 subunit. The NR2 subunits are encoded by the GRIN2A-D genes. NR2 subunits are expressed differentially across various cell types and are important for the control of electrophysiological properties of the NMDA receptor. Genetic variation in either the GRIN2A or GRIN2B genes has been implicated in various neurodevelopmental disorders, such as epilepsy, mental retardation and encephalopathy.
The GRIN2A gene (14 exons) spans ~430 kb of genomic DNA and is located on chromosome 16p13.2, about 10 Mb from the p-telomere. The GRIN2B gene (13 exons) spans ~420 kb of genomic DNA and is located on chromosome 12p13.1, about 14 Mb from the p-telomere. This P410-A1 probemix contains 17 probes for the GRIN2A gene, covering all exons with the exception of exon 2b. In addition, 16 probes for GRIN2B are included covering all exons with the exception of exon 6. Finally, 9 references probes are included in this probemix, detecting several different autosomal chromosomal locations.

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