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SALSA MLPA KIT P239 BRCA1 region
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This SALSA MLPA P239 BRCA1 region kit can be used to characterize BRCA1 deletions / duplications that extend to the region before exon 1 or after exon 27. Defects in the BRCA1 gene on human chromosome 17q21 are an important cause of hereditary breast cancer. This probemix contains 13 MLPA probes for the NBR1 and NBR2 genes and the BRCA1 pseudogene, which are located immediately upstream of the BRCA1 promotor region. Probes for the VAT1 and RND2 genes, located downstream of BRCA1, are also included. In addition, this probemix contains several probes for the genes ATM, CHEK1, CHEK2, PALB2, BRCA1, promoter area of BRCA2, BRIP1 and PTEN. Most of these genes have been linked to an increased chance on breast cancer. This SALSA MLPA kit is designed to detect deletions/duplications of sequences in the BRCA1 upstream and downstream region, as well as sequences in several other genes that have been implicated with an increased chance on breast cancer. 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 0607 (June 2006) Current Lot Number.: Lot 0607
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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