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SALSA MLPA KIT P258 SMARCB1
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). The protein encoded by the SMARCB1 gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. The SMARCB1 gene (also called INI1 or SNF5) is frequently deleted in malignant rhabdoid tumors. However, point mutations in this gene are also common; please note that most of these will not be detected by this MLPA assay. The SMARCB1 gene comprises 9 exons, spanning about 48 kb of genomic DNA on chromosome 22q11.23. This SALSA MLPA P258 SMARCB1 probemix contains two probes for each of the 9 exons. In addition, it contains several probes in the chromosome 22q11 and 22q12 regions, including probes for PEX2, ARVCF, SNAP29, LZTR1, PPIL2, GNAZ, SNRDPD3, SEZ6 and CHEK2. The new P250 DiGeorge MLPA probe set contains many more probes in the 22q11 region. This SALSA MLPA kit is designed to detect deletions of one or more exons of the SMARCB1 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.
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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 update probemix description Last change in probemix content Current lot number
: vs. 02; 18-06-2007 : lot 0407 (April 2007) : lot 0407
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