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SALSA MLPA KIT P265 PROC
[http://www.geneclinics.org/profiles/hht/details.html]
Protein C deficiency is usually inherited as an autosomal dominant trait that is associated with an increased risk of venous thrombosis. A much rarer severe homozygous (or compound heterozygous) form of protein C deficiency was first described as a cause of neonatal pupura foramens, resulting in rapid death caused by massive venous thrombosis. Protein C (PROC) is a vitamin K-dependent serine protease zymogen. Purified human activated protein C selectively destroys factors Va and VIII:C in human plasma and thus has an important anticoagulant role. Regulatory DNA elements responsible for PROC gene expression had been identified in the upstream promoter region and first (untranslated) exon of the PROC gene. The database of genome variants mentions no copy number changes of this genomic region in healthy individuals (June 2008, see http://projects.tcag.ca/variation/). The PROC gene comprises 9 exons, spans about 11 kb of genomic DNA and is located at chromosome 2q14.3, at a distance of 127,9 Mb from the p-telomere. This P265-A1 PROC probemix contains probes for each of the 9 exons, excluding exon 4. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the PROC gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. We have no information on what percentage of defects in this gene is 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 (pdf)
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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Last change in probemix content Current lot number
: lot 0508 (May 2008) : lot 0508
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