SALSA MLPA P160 STS probemix - 50 reactions

application: Steroid Sulfatase gene (STS)
region: STS Xp22 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P160-050R

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

Detailní popis SALSA MLPA P160 STS probemix - 50 reactions

P160-050R SALSA MLPA P160 STS probemix – 50 rxn

Defects in the Steroid Sulfatase gene (STS) are the cause of X-linked ichthyosis or placental steroid sulfatase deficiency. The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy.

The STS gene (10 exons) spans ~135 kb of genomic DNA and is located on chromosome Xp22.31, 7 Mb from the p-telomere. Most individuals (85-90%) with X-linked ichthyosis have extensive deletions of the STS gene. Point mutations however have also been described. The percentage of gene defects due to deletions in the STS gene is among the highest of all genetic diseases. Most patients have a deletion of the complete gene but partial STS gene deletions have also been described.

This P160-B1 STS probemix contains probes for each of the 10 exons as well as many other probes in the Xp22 region, including probes for the KAL1 gene involved in Kallmann syndrome and the NLGN4X gene that might be involved in X-linked autism. In addition, 11 reference probes are included in this probemix, detecting several different locations on the X-chromosome.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more exons of the STS, KAL1 and NLGN4X genes. 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 recognizable 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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