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SALSA MLPA KIT P138 SLC2A1
GLUT1 DEFICIENCY SYNDROME (MIM606777) can be caused by defective SLC2A1 alleles. 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. This P138 SLC2A1 probemix can be used to detect copy number changes of all 10 exons of the SLC2A1 gene on chromosome 1p34.2. This MLPA kit is designed to detect deletions/duplications of one or more exons of the SLC2A1 gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 04; 23-12-2006 Last change in probe mix content: Lot 0905 (September 2005) Current Lot Number.: Lot 1206
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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