SALSA MLPA P292 PCDH15 probemix - 50 reactions

application: Usher syndrome
region: PCDH15 10q21.1 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P292-050R

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Detailní popis SALSA MLPA P292 PCDH15 probemix - 50 reactions

P292-025R SALSA MLPA P292 PCDH15 probemix – 50 rxn

Usher syndrome is a heterogeneous autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. Three clinical subtypes (USH1, -2, and -3) are defined with respect to the degree and progression of hearing loss and the presence or absence of vestibular dysfunction. Usher syndrome type I (USH1) is the most disabling form, while USH2 is the most common of the three Usher syndromes. The following five genes have been identified for USH1: MYO7A (Myosin VIIA, USH1B), USH1C (Usher syndrome 1C), CDH23 (Cadherin related 23, USH1D), PCDH15 (Protocadherin-related 15, USH1F) and USH1G (Usher syndrome 1G). Mutations in the PCDH15 gene are associated with Usher syndrome type IF (USH1F). This gene is a member of the cadherin superfamily and encodes for integral membrane protein that mediate calcium-dependent cell-cell adhesion.

The PCDH15 gene (36 exons) spans ~980.2 kb of genomic DNA and is located on chromosome 10q21.1, ~56 Mb from the p-telomere. The P292-A2 probemix contains one probe for each exon of PCDH15 (two probes for exons 1 and 2) with the exception of exon 3, 13, 3 and 35. The database of genomic variants mentions several copy number changes in this genomic region that have been found in healthy individuals (see In addition, 8 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 this gene is caused by deletions/duplications of complete exons. Finally, 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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