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SALSA MLPA KIT P090 BRCA2
[http://www.geneclinics.org/profiles/hht/details.html]
Lot 0808: Two probes have a small change in length and signal height; no change in detected sequence. In addition, two extra control fragments at 100 and 105 nt have been added. This product is identical to the P045 BRCA2-CHEK2 probemix, but does not contain the three CHEK2 probes. This product is not intended for confirmation of results obtained with the P045 probemix. As the increased risk on breast cancer due to CHEK2 deletions is not well known, we received several requests to develop a product similar to P045 but without CHEK2 probes. BREAST CARCINOMA is the most common malignancy among women in developed countries and family history remains the strongest single predictor of breast cancer risk. Mutations in the BRCA1 and BRCA2 genes are linked to a high risk of young-onset breast cancer, and appear to be responsible for approximately 10% of total breast cancer cases. Women with these mutations have a cumulative risk of developing breast cancer (up to age 70) of 55-85%. The BRCA1 and BRCA2 proteins are associated with the activation of double-strand break repair and/or homologous recombination. Unlike BRCA1, BRCA2 has not been linked to ovarian cancer. BRCA2 mutations are less frequent than BRCA1 mutations but in families with male breast cancer cases, BRCA2 mutations may be more frequent. The P090 probemix contains probes for all exons of the BRCA2 gene. Two probes are present for exon 1, 3 and 27, and for the large exon 11. In addition, two probes are present for sequences just before and after the BRCA2 gene. For reference, 8 probes for other human genes located on different chromosomes are included. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the BRCA2 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. 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 0808 : lot 0808
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