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SALSA MLPA KIT P044 NF2
NEUROFIBROMATOSIS TYPE 2 (NF2) is an autosomal dominant cancer syndrome that predisposes the development of bilateral vestibular schwannomas. This disease is caused by inactivating mutations of the NF2 tumour-suppressor gene located on human chromosome 22q12. Mutational analysis of the NF2 gene in typical NF2 patients (i. e. those with bilateral vestibular schwannomas) has demonstrated causative mutation in as many as two-thirds of individuals (Jacoby et al. Am. J. Hum. Genet. 61:1293-1302, 1997). Many studies have documented that the NF2 gene behaves as a typical tumor-suppressor gene in these patients, with first hits (i.e. mutations and deletions) detectable in both constitutional and tumor specimens and second hits detectable only in tumors. Kluwe et al. (Manuscript in preparation) showed that large alterations affecting the NF2 gene account for 27% of the 77 cases in which no intragenic small mutations were found by exon scanning and for 16% of the total of 134 mutations identified among the 188 NF2 patients screened in the study. The probe mix included in this kit contains probes for each of the 17 coding exons of the NF2 gene. In addition, two probes for the promotor region of the NF2 gene are included. As a control, 12 probes for other human genes located on different chromosomes are included; among these one is specific for the NIPSNAP1 gene located 21.9 kb 5’ the promoter of NF2. Please note that the exon 16 probe behaves erratic and will be replaced in the future. This MLPA kit is designed to detect deletions / duplications of one or more exons of the genes. 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 change in probe mix content: Lot 0504 (May 2004) Current Lot Number.: Lot 0307
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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