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SALSA MLPA KIT P067 PTCH / Gorlin
Lot 0706: two small changes as compared to the previous lot 0705. Lot 0705 : Three new PTCH probes included as compared to lot 1204. Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant disease characterized by developmental abnormalities and a predisposition to cancers. The responsible gene for this syndrome is the PTCH tumour suppressor gene coding for the Sonic Hedgehog receptor. This P067 MLPA kit can be used to identify copy number changes of the complete or parts of the PTCH gene. The PTCH gene is located on 9q22.3 and has 24 exons, spanning approximately 60 kb of genomic DNA. The P067 probemix included in this MLPA kit contains probes for 23 different PTCH exons. No probe is present for exon 4, which is located very close to other exons. One P067 MLPA kit contains sufficient reagents for 100 MLPA reactions. This MLPA kit is designed to detect deletions / duplications of one or more exons of the genes. 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 the genes that are 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 probemix description: Vs. 07; 24-07-2006 Last change in probemix content: Lot 0706 (July 2006) Current lot number: Lot 0706
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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