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SALSA MLPA KIT P177 CASR
Defects which inactivate the CASR gene on chromosome 3q13 cause familial hypocalciuric hypercalcemia. Conversely, activating mutations in this gene can result in autosomal dominant hypocalcemia. The protein encoded by this gene functions as a sensor for parathyroid and kidney to determine the extracellular calcium concentration and thus helps to maintain a stable calcium concentration. The CASR gene comprises 7 exons, spanning about 103 kb of genomic DNA. Most individuals with familial hypocalciuric hypercalcemia have point mutations in the CASR gene, most of which will not be detected by the MLPA technique. Deletions of part or the complete CASR gene have also been described, however. This P177 CASR probemix contains probes for each of the 7 CASR exons. In addition, it contains several control probes in the other chromosomal regions. This MLPA kit is designed to detect deletions/duplications of one or more exons of the CASR gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. 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 update probemix description : vs. 01; 09-08-2006 Last change in probe mix content : Lot 0806 (August 2006) Current lot number : Lot 0806
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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