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SALSA MLPA KIT P043 APC
Lot 0107, 1205, 0904. Please note that the exon numbering has changed from description version 15 onwards (page 4). APC gene located on human chromosome 5q21-q22 is the primary gene implicated in hereditary polyposis colon cancer. Mutations in the APC gene are an initiating event for both familial and sporadic colorectal tumorgenesis. Most of these mutations accumulate in the central region of the APC gene, which is called the mutation cluster region (MCR), and result in expression of COOH-terminally truncated proteins. APC mutations in the first or last third of the gene are associated with an attenuated polyposis with a late onset and a small number of polyps (Van der Luijt Genes Chromosomes Cancer (1995) 13: 192-202), whereas mutations in the central region of the gene correlate with a severe phenotype of thousands of polyps at a young age and with additional extracolonic manifestations. Non-neoplastic cells of FAP patients are expected to retain normal APC function due to the presence of 1 wild type allele, irrespective of the mutation's position in the affected allele. Consistent with the Knudson 2-hit model, the wild type APC allele is lost in a great majority of colorectal tumors of both sporadic and FAP patients (Kinzler, K. W.; Vogelstein, B. Cell (1996) 87: 159-170). The APC gene comprises 15 exons and is located on chromosome 5q21-q22, at 113 Mb from the p-telomere. This P043 APC probemix contains probes for each of the 15 coding exons of the APC gene as well as an alternative exon 10A. In addition, three probes for the promotor region of the APC gene are included, according to Esteller et al. (Cancer Res 2000 Aug 15;60(16):4366-71) and Lambertz et at. (Hum Genet 1993 Feb; 90(6):650-2). Exon 15 has a length of more than 8 Kb and is detected by five different probes. Furthermore, 13 reference probes are included on other human genes located on different chromosomes. The 400 Kb regions upstream of APC do not appear to contain any genes. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the APC gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe 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 0904 (Oktober 2004) 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 2007 -- A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation-Dependent Probe Amplification. 2006 -- Singapore Familial Adenomatous Polyposis (FAP) Patients with Classical Adenomatous Polyposis but Undetectable APC Mutations. Have Accelerated Cancer Progression. 2006 -- A Novel Exon Duplication Event Leading to a Truncating Germ-line Mutation of the APC Gene in a Familial Adenomatous Polyposis Family. Mihalatos (2005). Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. 2005 -- Adenomatous Polyposis Families That Screen APC Mutation-Negative by Conventional Methods Are Genetically Heterogeneous. 2005-- Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. 2004-- Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques. 2004-- Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. 2004-- Poster/presentation: P043 APC; ESHG Meeting, Munchen, juni 2004.
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