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SALSA MLPA KIT P240 BRIP1-CHEK1
[http://www.geneclinics.org/profiles/hht/details.html]
The protein encoded by the BRIP1 gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germ line cancer-inducing mutations. BRIP1 gene is mapped to 17q22 and has been shown to be the gene mutated in FA-J (FANCJ) cells (Levran et al., Nat Genet. 2005 Sep; 37(9):921-2.). The BRIP1 gene comprises 20 exons, spanning about 180 kb of genomic DNA. CHEK1 plays an essential role in the mammalian DNA damage checkpoint (G2/M DNA damage checkpoint), embryonic development, and tumor suppression, and is regulated by ATR (Liu et al.,Genes Dev. 2000 June 15; 14(12): 1448-1459.). CHEK1 gene is mapped to 11q22-q23 and comprises 13 exons, spanning about 30 kb of genomic DNA. This P240 BRIP1-CHEK1 probemix contains probes for each of the 20 exons of the BRIP1 gene and probes for each of the 13 exons of CHEK1. In addition, it contains one probe each for the following genes; FANCA, FANCD2, PTEN, ATR and ATM, as well as several control probes. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the BRIP1 and CHEK1 genes. 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. 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)
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 0507 (May 2007) : lot 0507
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