SALSA MLPA P186 PAX3 probemix - 100 reactions

application: Waardenburg syndrome (WS) type II, WS1, WS3
region: PAX3 2q35, MITF 3p14, SOX10 22q13.1 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P186-100R

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

Detailní popis SALSA MLPA P186 PAX3 probemix - 100 reactions

P186-100R SALSA MLPA P186 PAX3-MITF-SOX10 probemix – 100 rxn

Mutations in the MITF and PAX3 genes, encoding transcriptions factors, are responsible for Waardenburg syndrome (WS) type II and WS1/WS3, respectively. MITF transactivates the gene for tyrosinase, a key enzyme for melanogenesis, and is critically involved in melanocyte differentiation. Absence of melanocytes affects pigmentation in the skin, hair, and eyes, and hearing function in the cochlea. Therefore, hypopigmentation and hearing loss in WS2 are likely to be the results of an anomaly of melanocyte differentiation caused by MITF mutations. PAX3 regulates MITF, and failure of this regulation due to PAX3 mutations results in the auditory-pigmentary symptoms in at least some individuals with WS1.

  • The PAX3 gene (9 exons) spans ~100 kb of genomic DNA and is located on chromosome 2q36.1, ~222.8 Mb from the p-telomere. The P186-C1 PAX3 MITF SOX10 probemix contains probes for all 9 PAX3 exons.
  • The MITF gene (15 exons) spans ~229 kb of genomic DNA and is located on chromosome 3p14.1, ~70 Mb from the p-telomere. Probes for exons 1, 5, 7 and 9 to 15 of the MITF gene in transcript variant one are present in this P186-C1 probemix.
  • The SOX10 gene (4 exons) spans 12.2 kb of genomic DNA and is located on 22q13, 38.4 Mb from the p-telomere. This P186-C1 probemix contains probes for each SOX10 exon.

In addition, 10 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 genes 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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