SALSA MLPA P307 SEPT9 probemix - 50 reactions

SALSA MLPA P307 SEPT9 probemix - 50 reactions

Hereditary neuralgic amyotrophy (HNA).

region: SEPT9 17q25.3 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P307-050R

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

Detailní popis SALSA MLPA P307 SEPT9 probemix - 50 reactions

P307-025R SALSA MLPA P307 SEPT9 probemix – 50 rxn

description
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that affects the brachial plexus and may first appear in childhood. It is characterized by episodes of sudden onset pain in arms and shoulders as well as weakness, followed by total or partial paralysis of the affected area. These episodes are often triggered by an infection, an immunization, childbirth, or overworking the arms and shoulders.

HNA has been associated with mutations in the Septin 9 gene (SEPT9), a member of the Septin family. Septins are a group of evolutionarily conserved genes encoding proteins with various functions, including membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and oncogenesis. SEPT9 is ubiquitously expressed and it is believed that it is involved in cytokinesis and tumorigenesis.

The SEPT9 gene comprises 18 exons among several different transcript variants, spans about 220 kb of genomic DNA and is located on chromosome 17q25.3, 72.8 Mb from p-telomere.

This P307-B1 SEPT9 probemix contains probes for 17 SEPT9 exons. Several of these exons are only present in certain transcript variants. The clinical significance of exon deletions in the SEPT9 gene, in particular of those exons that are present in only certain transcript variants, is not known to us. In addition, 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 aforementioned 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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