SALSA MLPA P304 IRF6 probemix - 100 reactions

SALSA MLPA P304 IRF6 probemix - 100 reactions

Van der Woude syndrome (VWS).

region: IRF6 1q32.2 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P304-100R

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

Detailní popis SALSA MLPA P304 IRF6 probemix - 100 reactions

P304-025R SALSA MLPA P304 IRF6 probemix – 100 rxn

description
Van der Woude syndrome is characterized by defects in the Interferon Regulatory Factor 6 (IRF6) gene on chromosome 1. The IRF6 protein encoded by this gene is related to the formation of connective tissues such as the palate. Two articles are published in which deletions in this region are found to be associated with van der Woude syndrome (Ayano S. et al.; PubMed ID:14618417 and Kondo, S. et al.; PubMed ID:12219090).

The IRF6 gene comprises 9 exons, spans about 18.2 kb of genomic DNA and is located at chromosome 1q32.2.

The database of genome variants mentions no copy number changes of this genomic region in healthy individuals (see http://projects.tcag.ca/variation/).

This P304 probemix contains 1 probe for each of the 9 IRF6 exons. In addition, it contains a mutation-specific probe which detects the common V274I mutation. This probe should only appear if the mutation is present and is thus not visible in normal samples.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more exons of the IRF6 gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. We have no information on what percentage of defects in this gene is caused by deletions/duplications of complete exons. Please note that most defects in this gene are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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