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SALSA MLPA KIT P248 MLH1-MSH2 confirmation
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
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SALSA MLPA kit P248 MLH1-MSH2 can be used to confirm results obtained with SALSA MLPA P003 MLH1-MSH2 probemix. We recommend to use the P003 kit for the primary screening. Germ-line defects in the DNA mismatch repair genes MSH2 and MLH1 are the major cause of hereditary nonpolyposis colon cancer (HNPCC). Detection of the germ-line defect in HNPCC families allows identification of relatives who require appropriate surveillance and prevents useless surveillance in non-carrier relatives. A significant percentage of the HNPCC germ-line mutations are genomic deletions of one or more exons of the MLH1 and MSH2 genes (Wijnen J.T. et al (1998) Nature Genet. 20: 326-328). In a recent study in which 126 colorectal cancer families were screened, a germ-line mutation was detected in 30% of the families (Gille, J.J.P. et al (2002) British J. of Cancer 87, 892-897). Deletions of one or more MLH1/MSH2 exons were detected with the use of P003 MLPA kit, and accounted for 46% of all mutations detected (55% of the pathogenic mutations). A wide variety of exon deletions was detected in this study. Apparently, the high percentage of genomic rearrangements found was not due to a small number of founder mutations. This suggests that genomic rearrangements of the MLH1 and MSH2 genes might also be an important cause of HNPCC in other countries. In the study of Gille et al, copy number changes of one or more exons were detected in 17 out of 126 families (13,5%). However, this percentage will depend on the way the cohort is selected. This P248 MLH1-MSH2 probemix contains probes for all 19 MLH1 exons and all 16 MSH2 exons. For some MLH1 and MSH2 exons, more than one probe is present. In addition, one probe is present for the LRRFIP2 gene that is located close to the last MLH1 exon as well as one probe for the KCNK12 gene that is located at close distance of MHS2. Please note that some MLH1 and MSH2 exon 1 probes and two probes upstream of MSH2 are present in the P008 probemix. Related SALSA MLPA kits ME011 Mismatch Repair genes (MMR) - genes included: MLH1, MSH2, MGMT; P043 APC - Colon cancer (polyposis) - genes included: APC
Full mix description (word)
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 0607 (June 2007) : lot 1107
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