Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P274 Startle disease probemix - 100 reactions

SALSA MLPA P274 Startle disease probemix - 100 reactions

application: Startle disease, Hyperekplexia
region: GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P274-100R

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

Detailní popis SALSA MLPA P274 Startle disease probemix - 100 reactions

P274-025R SALSA MLPA P274 SLC6A5/GLRA1/GLRB probemix – 100 rxn

Hyperekplexia (startle disease) is a hereditary neurological disorder characterised by exaggerated startle reflexes and muscle stiffness in the neonate. The disease has been associated with mutations in the glycine receptor subunit genes GLRA1 and GLRB, and within the glycine transporter22 gene SLC6A5 (GLYT2).

Autosomal dominant and autosomal recessive hyperekplexia can be caused by mutations in the GLRA1 gene encoding the alpha-1 subunit of the glycine receptor. Mutations in the SLC6A5 gene encoding the presynaptic glycine transporter-2 and mutations in the GLRB gene encoding the beta-subunit of the glycine receptor have been identified in autosomal recessive hyperekplexia cases.

SLC6A5 gene comprises 16 exons, spans about 56 kb of genomic DNA and is located at chromosome 11p15.1, ~20 Mb from the p-telomere. GLRA1 gene comprises 9 exons, spans about 102 kb of genomic DNA and is located at chromosome 5q33.1, ~151 Mb from the p-telomere. GLRB gene comprises 11 exons, spans about 95 kb of genomic DNA and is located at chromosome 4q32.1, ~158 Mb from the p-telomere.

This P274-A3 SLC6A5/GLRA1/GLRB probemix contains probes for each exon of the SLC6A5 gene. In addition, it contains probes for each exon of the GLRA1 gene and for each exon of the GLRB gene, with the exception of exon 2. Finally, this probemix holds 10 reference probes detecting sequences on other chromosomal locations.

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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