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SALSA P091 CFTR MLPA KIT
CYSTIC FIBROSIS and congenital bilateral aplasia of the vas deferens can be caused by mutations in the CFTR gene. Cystic fibrosis transmembrane conductance regulator (CFTR) functions as a chloride channel and controls the regulation of other transport pathways. The CFTR gene has 24 exons. The CFTR gene spans 190 Kb of chromosomal sequence and is located on 7q31.2. Most defective CFTR genes are the result of point mutations and small deletions / insertions that can be detected by sequencing, DHPLC and other methods. Several deletions of one or more CFTR exons have been identified. Copy number changes of one or more exons will account for less than 10% of all CFTR mutations in most populations. The database of genome variants mentions no copy number changes of this genomic region in healthy individuals (see http://projects.tcag.ca/variation/). This P091-B1 CFTR probemix contains probes for each of the 24 exons and a second probe for exon 6, 14, 17 and for exon 24. In addition, the probemix P091-B1 contains a mutation specific that detects the common allele of the d508 polymorphism. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the CFTR 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)
Last change in probe mix content: Lot 0708 (July 2008) Current Lot Number.: Lot 0708
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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