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SALSA MLPA KIT P209 GLDC
[http://www.geneclinics.org/profiles/hht/details.html]
Mutations in several genes involved in the mitochondrial glycine cleavage system have been found to cause glycine encephalopathy (GCE). These include the genes encoding P protein (GLDC), T protein (GCST) and the H protein (GCSH). Defects in the GLDC gene on chromosome 9 are the main cause of GCE. The protein encoded by this gene is glycine decarboxylase. The GLDC gene comprises 25 exons, spanning about 135 kb of genomic DNA. Most individuals with GCE have point mutations in the GLDC gene, most of which will not be detected by the MLPA technique. Deletions of part of the GLDC gene has also been described, however. This P209 GLDC probe mix contains probes for each of the 25 exons.
Full mix description (word)
Full mix description (pdf)
Last change in probemix content Current lot number
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)
[http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17361008&query_hl=31&itool=pubmed_docsum]
References 2007 -- Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
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: lot 0806 (August 2006) : lot 0806
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