SALSA MLPA P306 SPG11 probemix - 50 reactions

SALSA MLPA P306 SPG11 probemix - 50 reactions

Hereditary spastic paraplegia (HSP or SPG).

region: SPG11 or KIAA1840 15q21.1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P306-050R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P306 SPG11 probemix - 50 reactions

P306-025R SALSA MLPA P306 SPG11 probemix – 50 rxn

description
Hereditary spastic paraplegia (HSP or SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 (Spastic paraplegia 11) 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. The SPG11 gene (40 exons) and spans ~100 kb of genomic DNA. The P306-B1 SPG11 probemix contains probes for each of the 40 SPG11 exons. In addition, one probe is included for B2M gene that is located 50 kb upstream, and one probe for the CASC4 gene that is located 150 kb downstream of SPG11. Furthermore, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® kit is designed to detect deletions/duplications of one or more sequences in the SPG11 gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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