General information
The SALSA MLPA
Probemix P410 GRIN2A-GRIN2B is a
research use only (RUO) assay for the detection of deletions or duplications in the
GRIN2A and
GRIN2B genes, which are associated with neurodevelopmental disorders.
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, intellectual disability and encephalopathy.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK385627 and [INVALID LINK].
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P410-A2 GRIN2A-GRIN2B contains 43 MLPA probes with amplification products between 130 and 463 nucleotides (nt). This includes 17 probes for the
GRIN2A gene and 16 probes for the
GRIN2B gene, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.