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SALSA MLPA KIT P225 PTEN
[http://www.geneclinics.org/profiles/hht/details.html]
The PTEN gene is a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is able to dephosphorylate phosphoinositide substrates. It negatively regulates the AKT-PKB signaling pathway. In addition, defects in the PTEN gene on chromosome 10q23 are the main cause of Cowden disease. Cowden disease is characterized by hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesios, and increased risk of developing neoplasms. Most probes for PTEN that are present in this P225 PTEN probemix are also present in the P158 probemix for Juvenile Polyposis, in view of the resemblance between Cowden disease and Juvenile Polyposis. The PTEN gene comprises 9 exons, spanning about 105 kb of genomic DNA. This P225 PTEN probemix contains probes for each of the 9 exons. Two probes are present for exon 1 and three for exon 2. This MLPA kit is designed to detect deletions/duplications of one or more exons of the PTEN 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 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 0408 (April 2008) : lot 0408
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