SALSA MLPA P153 EYA1 probemix - 50 reactions

application: Branchio-oto-renal dysplasia syndrome (BOR)
region: EYA1 8q13.3. Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P153-050R

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Detailní popis SALSA MLPA P153 EYA1 probemix - 50 reactions

P153-050R SALSA MLPA P153 EYA1 probemix – 50 rxn

Branchio-oto-renal dysplasia (BOR) syndrome, an autosomal dominant disorder, affects an estimated 2% of profoundly deaf children and besides deafness it is characterized by renal, head, and neck abnormalities. Defects in the EYA1 gene are the cause of this syndrome. Complex genomic rearrangements account for a considerable fraction of all identified mutations in EYA1 (Chang, E. H. et al., 2004, Hum Mutat.; Vervoort, V. S. et al., 2002, Eur J Hum Genet.).

The EYA1 gene (18 exons) spans ~159.3 kb of genomic DNA and is located on chromosome 8q13.3, ~72 Mb from the p-telomere.

The P153-A2 probemix contains probes for 14 out of the 18 exons, including two probes for exon 6, 9 and 10. No probes are present for exon 1, 8, 13 and 16. 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 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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