SALSA MLPA P233 MID1 probemix - 100 reactions

SALSA MLPA P233 MID1 probemix - 100 reactions

application: OPITZ syndrome
region: MID1 Xp22 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P233-100R

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

Detailní popis SALSA MLPA P233 MID1 probemix - 100 reactions

P233-025R SALSA MLPA P233 MID1 probemix – 100 rxn

description
The X-linked form of OPITZ syndrome is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias and agenesis of the corpus callosum. Defects in the MID1 gene are the main cause of X-linked OPITZ syndrome. The protein encoded by this gene is likely to be involved in the formation of multi-protein structures acting as anchor points to microtubules.

The MID1 gene (12 exons) spans ~393 kb of genomic DNA and is located on Xp22.2, 10 Mb from the p-telomere. The P233-B1 probemix contains two probes for each exon of the MID1 gene.

This probemix furthermore contains 2 probes for the FANCB gene (4 Mb upstream of MID1), and 2 probes for GPR143 (700 kb downstream of MID1). In addition, 10 reference probes are included in this probemix, detecting 10 different chromosomal locations.

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