SALSA MLPA P394 MYO5B probemix - 50 reactions

SALSA MLPA P394 MYO5B probemix - 50 reactions

application: Microvillus Inclusion Disease (MVID)
region: MYO5B 18q21.1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P394-050R

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

Detailní popis SALSA MLPA P394 MYO5B probemix - 50 reactions

Microvillous inclusion disease is a rare congenital enterocyte disorder causing severe diarrhea and intestinal failure. Defects in the MYO5B gene on chromosome 18q21 is one of the causes of microvillous inclusion disease. The protein encoded by this gene is Myosin Vb, involved in plasma membrane recycling.

The MYO5B gene (40 exons) spans ~372.3 kb of genomic DNA and is located on 18q21.1, 47.3 Mb from the p-telomere. The P394-A1 probemix contains one probe for each exon of the gene with the exception of the exons 16, 25 and 30. A second probe for exon 1 is also included. In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations. The database of genomic variants mentions several copy number changes in this genomic region have been found in healthy individuals (see http://projects.tcag.ca/variation).

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