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SALSA MLPA KIT P306 Spastic paraplegia 11 (SPG11)
[http://www.geneclinics.org/profiles/hht/details.html]
Hereditary spastic paraplegia (HSP or SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form that has neurologic features in addition to spasticity. Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. The SPG11 locus maps to chromosome 15q21.1 and is responsible for ARHSP-TCC (Stevanin et al. 2007; Lee et al. 2008). The SPG11 or KIAA1840 gene (also known as, SPATACSIN, FLJ21439) encodes a 2443 amino acid protein, spatacsin of unknown function, and comprises 40 exons, spanning about 100 kb of genomic DNA. This P306-A1 probemix contains probes for each of the 40 SPG11 exons. In addition, one probe for B2M gene that is located 50 kb upstream, and one probe for the CASC4 gene that is located 150 Kb downstream of SPG11 are present. Finally, this probemix includes 7 reference probes, which detect sequences on different autosomal chromosomes. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the SPG11 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. 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 0508 (May 2008) : lot 0508
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