SALSA MLPA P209 GLDC probemix - 100 reactions

application: Glycine encephalopathy
region: GLDC 9p22 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P209-100R

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

Detailní popis SALSA MLPA P209 GLDC probemix - 100 reactions

P209-025R SALSA MLPA P209 Glycine Encephalopathy probemix – 100 rxn

description
Glycine encephalopathy (GCE, also known as nonketotic hyperglycinemia; NKH) is an inborn error of glycine metabolism in which large quantities of glycine accumulate in all body tissues, including the brain. This is due to deficient glycine cleavage enzymes. The majority of the glycine encephalopathy cases presents in the neonatal phase. This leads to progressive lethargy, hypotonia, and myoclonic jerks which in turn leads to apnea and often death.

Three genes are known to cause GCE. Glycine dehydrogenase (GLDC) encodes the P protein component in the glycine cleavage system (GCS). This gene is responsible for 70-75% of the disease. Aminomethyltransferase (AMT) encodes the T-protein of the GCS complex and accounts for 20% of glycine encephalopathy. Glycine cleavage system protein H (GCSH), which is the H-protein of the GCS complex accounts for <1% of the disease. Around 5% of individuals with glycine encephalopathy do not have a mutation in any of these three genes.

The GLDC gene (25 exons) spans ~113 kb of genomic DNA and is located on 9p24.1. The P209-C1 probemix contains one probe for each exon of the gene and two probes for exon one. The AMT gene (9 exons) spans ~6 kb of genomic DNA and is located on 3p21.31. The P209-C1 probemix contains one probe for each exon of the AMT gene. The GCSH gene (5 exons) spans ~14 kb of genomic DNA and is located at 16q23.2. The P209-C1 probemix contains one probe for each exon of the GCSH gene. In addition, 10 reference 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 genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height 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 height, 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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