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SALSA MLPA KIT P068 HMGCS2
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS) catalyses the first step of ketogenesis from Acetyl-CoA and acetoacetil-CoA. The human protein is encoded by the HMGSC2 gene, which spans 20 kb genomic DNA on chromosome 1p13-p12. The gene contains 10 exons and is expressed in the liver and testis but is absent in other body cells. mHMGS deficiency is inherited as a recessive trait resulting in hypoketotic hypoglycaemic coma after prolonged fasting during gastrointestinal infections during childhood. The P068 probe mix included in this kit contains probes specific for each of the 10 exons of HMGCS2. Two probes each are present for exons 1 and 2. In addition, 13 probes for other human genes located on different chromosomes are included for copy number quantification. One of these probes recognizes the NOTCH2 gene which is located approximately 150 kb centromeric on chromosome 1p. This MLPA kit is designed to detect deletions / duplications of one or more exons of the HMGCS2 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 will therefore always require confirmation by other methods. We have no information on the percentage of defects in this gene that are caused by deletions / duplications of complete exons. Please note that most defects in this gene 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. 01; 30-08-2005 Last change in probe mix content: Lot 0905 (September-2005) Current Lot Number.: Lot 0905, lot 1005
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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