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SALSA MLPA KIT P057 FANDC2-PALB2
[http://www.geneclinics.org/profiles/hht/details.html]
Fanconi anemia (FA) is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Eight FA-associated genes have been identified so far, the products of which function in the FA/BRCA pathway. A key event in the pathway is the monoubiquitination of the FANCD2 protein, which depends on a multiprotein FA core complex. Defects in the FANCD2 gene on chromosome 3 are one of the possible causes of Fanconi Anemia. The protein encoded by this gene is the FANCD2 protein. The FANCD2 gene comprises 44 exons, spanning about 73 kb of genomic DNA on chromosome 3p25.3. Most individuals with FANCD2 defects have point mutations in the FANCD2 gene, which will not be detected by the MLPA technique. However, deletion of exon 17 of the FANCD2 gene has also been described. This P057 FANCD2-PALB2 probemix contains probes for 12 of the 44 FANCD2 exons. Recently, Fanconi anemia has also been linked to defects in the PALB2 gene on 16p12. In three different articles in Nature Genetics (December 2006, Epub ahead of print), it was shown that mutations in PALB2 result in an increased susceptibility to breast cancer and that biallelic mutations cause Fanconi anemia subtype FA-N and predispose to childhood cancers (PALB2 = Partner and localizer of BRCA2). The PALB2 gene is located on chromosome 16p12 and contains 13 exons that span approximately 40 kb. This P057 probemix contains for all 13 exons of the PALB2 gene.
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 0107 (January 2007) : lot 0207
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