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SALSA MLPA KIT P008 MSH6 / PMS2
Germline defects in the MSH2 and MLH1 genes are the major cause of hereditary colon cancers (HNPCC) of the non polyposis type. The SALSA MLPA kit P003 MSH2-MLH1 provides a simple method to detect deletionsin these two genes (Gille, H. et al, British J. Cancer 87, 892-897). Other genes involved in the same DNA repair pathways, as MLH1 and MSH2, include PMS2, MLH3, MUTYH, MSH3 and MSH6. Germ-line defects in MSH6 are know to cause HNPCC. Defects in the other genes, PMS2, MLH3, MUTYH, MSH3, might also be a cause of HNPCC. This SALSA MLPA kit P008 MSH6/PMS2 provides a simple method to determine the copy numbers of many exons of these five genes. Whereas the number of deletions / duplications detected by the P003 kit can be 10% of all samples tested, this % is much lower for this P008 kit. The Leiden website mentions that three MSH6 deletions have been found in 36 patients with a MSH6 mutation (www.lumc.nl/4080/DNA/MSH6.html). For comparison, 36 deletions were detected in 67 families with a pathogenic MSH2 mutation and 5 deletions in 51 families with pathogenic MLH1 mutations. This P008 MSH6 / PMS2 probemix contains probes for each of the 10 MSH6 exons. Probes are present for 13 of the 15 PMS2 exons. Since some PMS2 exons have 100% sequence identity with one or more PMS2 pseudogenes, some PMS2 probes detect introns. Please note that PMS2 exon 13-14-15 probes have been reported to provide variable results by two users. Many sequences related to this exon 13-15 region are present in the genome. Results obtained with these probes should be treated with caution or be disregarded. Five probes are present for the MUTYH gene and six probes are included for MLH3 and MSH3. However, it is not certain whether deletions in these genes can considerably increase the risk on tumour formation. Only one APC probe is present in the current P008 probemix. SALSA MLPA kit P043 APC contains probes for each of the 15 APC exons. In addition, one probe is included for MSH2 exon 1, two probes for the TACSTD1 gene located immediately in front of MSH2 and two probes for MLH1 exon 1. These probes can be useful to confirm and further characterise deletions that involve exon 1 of these genes, detected with SALSA MLPA kit P003 MSH2/MLH1.
Full mix description (pdf)
Last change in probe mix content: Lot 0408 (April 2008) Current Lot Number.: Lot 0408
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 2006 -- Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations. 2005 -- Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer.
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