SALSA MLPA P129 GJB1 probemix - 25 reactions

SALSA MLPA P129 GJB1 probemix - 25 reactions

application: Charcot Marie Tooth disease, x-linked
region: GJB1 Xq13.1 Detailní informace

Cena s DPH € 294.03
Cena bez DPH € 243.00
 25 react
Dostupnost Skladem
Kód produktu P129-025R

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

Detailní popis SALSA MLPA P129 GJB1 probemix - 25 reactions

P129-025R SALSA MLPA P129 GJB1 probemix – 25 rxn

Defects in the GJB1 gene (CX32) are the main cause of X-linked Charcot Marie Tooth disease.

The small GJB1 gene (3 exons), spans ~1.9 kb of genomic DNA and is located on chromosome Xq13.1. The P129-B1 probemix contains six probes for GJB1 gene. Please note that we have no information whether or not deletions of the non-coding exon 1, or the non-coding exon 2, results in disease.

The P129-B1 probemix contains one probe close to the promoter that is used in transcript variant 1 (NM_001097642.2), one probe in the promoter region used in transcript variant 2 (NM_000166.5) and four probes in the only coding exon. In addition, the P129-B1 probemix contains 10 reference probes that are all located on the X chromosome.

This SALSA® MLPA® kit is designed to detect deletions/duplications of the GJB1 gene in a DNA sample. Deletions of a  probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35-50% reduction in relative peak area. 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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