SALSA MLPA P138 SLC2A1 probemix - 100 reactions

application: Glut1 deficiency syndrome
region: SLC2A1 1p34.2 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P138-100R

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

Detailní popis SALSA MLPA P138 SLC2A1 probemix - 100 reactions

P138-100R SALSA MLPA P138 SLC2A1 probemix – 100 rxn

Glucose transporter-1 deficiency syndrome (MIM606777) is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. The most common phenotype is characterized by developmental encephalopathy with infantile seizures, acquired microcephaly and spasticity. Glucose transporters are integral membrane glycoproteins involved in transporting glucose into most cells. GLUT1 is a major glucose transporter in the mammalian blood-brain barrier. It is present at high levels in primate erythrocytes and brain endothelial cells.

The high metabolic requirements of the mammalian central nervous system require specialized structures for the facilitated transport of nutrients across the blood-brain barrier. The facilitative glucose transporter GLUT1 is expressed on endothelial cells at the blood-brain barrier and is responsible for glucose entry into the brain. Stereo-specific high-capacity carriers, including those that recognize glucose, are key components of this barrier, which also protects the brain against noxious substances.

The SLC2A1 gene (10 exons) is located on chromosome 1p34.2. This P138-B1 probemix contains one probe for each exon of the SLC2A1 gene and a  second probe for exons one and two. In addition, 11 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.
Leen WG et al (2010) described SLC2A1 mutation analysis in 132 patients. In 54 patients mutations were detected, including 6 multiple exon deletions. The deletion in 5 out of 6 patients encompassed the complete SLC2A1 gene.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the SLC2A1 gene in a  DNA sample. Heterozygous deletions of probe 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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