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SALSA MLPA KIT P256 FLCN
[http://www.geneclinics.org/profiles/hht/details.html]
The FLCN gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome. Birt-Hogg-Dube syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. In 9 BHD families and an additional 53 probands from small BHD families, Nickerson et al. (2002) identified insertion or deletion mutations within a hypermutable C8 tract in exon 11 of the BHD (FLCN) gene in 27 of 62 patients (44%). Eighteen had a 1-bp insertion and 9 had a 1-bp deletion in the C8 tract. A slippage-mediated mechanism during DNA replication was thought to be responsible for these frameshift mutations leading to protein truncation. The FLCN gene comprises 14 exons, spanning about 25.0 kb of genomic DNA and is located at 17p11 (17 Mb from p telomere). This P256 FLCN probemix contains probes for each of the 14 exons of FLCN. In addition, 2 mutation specific probes (1-BP DEL, 1733C; 1-BP INS, 1733C), are included. These mutation specific probes will only generate a signal when the mutation is present! This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the FLCN 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 0407 (April 2007) : lot 1007
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