SALSA MLPA P280 SLC26A4 probemix - 50 reactions

application: Pendred syndrome
region: SLC26A4 7q31 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P280-050R

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

Detailní popis SALSA MLPA P280 SLC26A4 probemix - 50 reactions

P280-025R SALSA MLPA P280 SLC26A4 probemix – 50 rxn

description
Pendred syndrome is an autosomal recessive disorder and the most common syndromal form of deafness. It is associated with developmental abnormalities of the cochlea, sensorineural hearing loss, diffuse thyroid enlargement (goiter) and is caused by mutations in the SLC26A4 gene. Mutations in this gene can also cause enlarged vestibular aqueduct (EVA). The SLC26A4 gene (21 exons), spans ~ 57.2 kb of genomic DNA and is located at chromosome 7q31 (107.1 Mb from q-telomere).

The SLC26A4 gene encodes for a 780 amino acid protein, pendrin, which functions as an ion transporter. Located on the apical membrane of thyrocytes, it appears to be responsible for the transport of iodide out of the cell into the colloid where iodination of thyroglobulin occurs, catalyzed by the enzyme thyroid peroxidase. In the absence of the transporter, apical iodide transport is defective and thus organification of iodide is defective, the hallmark of Pendred Syndrome.

This P280-B1 Pendred-SLC26A4 probemix contains probes for each of the 21 exons of SLC26A4 gene. This probemix furthermore contains three mutation-specific probes for the IVS8+1G>A donor splice mutation, the L236P (707T>C) mutation and the T416P amino acid substitution. These probes will only generate a signal when the mutation is present. These three mutations have been found in several cases of Pendred syndrome. In addition, 14 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

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