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SALSA MLPA KIT P056 TP53
LI-FRAUMENI SYNDROME Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. Approximately 70% of LFS cases and 40% of LFL case contain germline mutations in the p53 gene on chromosome 17p13.1. In a subset of non-p53 patients with LFS, mutations have been identified in the CHEK2 gene on chromosome 22q11. A third LFS locus has been identified on chromosome 1q23. This P056 TP53 probemix contains probes for each of the 11 exons of the TP53 gene on 17p13.1,, as well as several probes at close distances telomeric and centromeric of the TP53 gene. Two probes detect sequences in exon 1 of TP53. In addition, two probes are present for the CHEK2 gene on chromosome 22q12.1, as well as one probe specific for the CHEK2 1100delC mutation. This probe will only give a signal when the mutation is present! Please note more CHEK2 probes are available in SALSA MLPA kit P190 CHEK2. Eleven control probes for sequences located on other chromosomes are also included. This MLPA kit is designed to detect deletions/duplications of one or more exons of the TP53 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 these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
Last change in probe mix content: Lot 0406 (April 2006) Current Lot Number.: Lot 0107
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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