SALSA MLPA P165 HSP probemix - 50 reactions

application: Spastic paraplegia, hereditary (HSP)
region: SPG3A 14q21, SPAST 2p22 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P165-050R

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

Detailní popis SALSA MLPA P165 HSP probemix - 50 reactions

P165-050R SALSA MLPA P165 HSP probemix – 50 rxn

Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterised by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin gene (SPAST) located on chromosome 2p22 and the atlastin gene (ATL1 (SPG3A)) located on chromosome 14q21 have been known to account for approximately 40% and 10% of all cases, respectively.

The P165-B1 probemix contains one probe for each exon of ATL1 (SPG3A) gene with the exception of exon 14. Two probes for the isolated exon 2  are included. For SPAST there are probes included for all of the 17 exons, including two probes for exon 17 and three probes specific for exon 1. In addition, 12 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes 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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