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SALSA MLPA P113 FANCB KIT
[http://www.geneclinics.org/profiles/hht/details.html]
The FANCB (FLJ34064) gene has 9 exons, spans 29 Kb of chromosomal sequence and is located on chromosome Xp22. Defects of the FANCB gene result in Fanconi anemia, complementation group B. Pointmutations and small deletions / insertions in the FANCB gene can be detected by sequencing, DHPLC and other methods. Deletions and duplications of complete exons are usually not detected by sequencing or DHPLC as there is usually also a normal allele of that exon present. Purpose of this MLPA kit is to screen DNA samples from different types of tumor samples for copy number changes in the FANCB gene. These could be early changes in the development of tumors. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the FANCB gene. Deletions of probe recognition sequences in males will be apparent by the absence of the probe amplification product. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected. 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 (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0507 (July 2007) Current Lot Number.: Lot 0507
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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