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SALSA MLPA KIT P279 CACNA1A
[http://www.geneclinics.org/profiles/hht/details.html]
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multi subunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene, CACNA1A, encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurological disorders, familial hemiplegic migraine and episodic ataxia 2. The CACNA1A gene comprises 47 exons, spanning about 299.2 kb of genomic DNA. CACNA1A is located at 19p13 (13.2Mb from the p telomere). This P279 CACNA1A probemix contains probes for 24 of the 47 exons of CACNA1A (2 probes for exon 1). This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the CACNA1A genes. 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 (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 0907 (September 2007) : lot 0907
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