SALSA MLPA P445 KDM6A probemix - 50 reactions

SALSA MLPA P445 KDM6A probemix - 50 reactions

application: Kabuki Syndrome Type 2 (KS2)
region: Xp11.3. Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P445-050R

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

Detailní popis SALSA MLPA P445 KDM6A probemix - 50 reactions

P445-050R SALSA MLPA P445 KDM6A probemix – 50 rxn

Kabuki syndrome is a congenital mental retardation syndrome with additional features including postnatal dwarfism and distinctive facial features. Type 1 Kabuki syndrome (KS1) has been linked to mutations in the MLL2 gene (also known as KMT2D), while Type 2 Kabuki syndrome (KS2) has been associated with KDM6A, also known as UTX and KABUK2. KDM6A encodes a histone demethylase that interacts with MLL2.

The KDM6A gene (29 exons) spans ~239 kb of genomic DNA and is located on Xp11.3, about 45 Mb from the p-telomere. The P445-A1 probemix contains one probe for each exon of the KDM6A gene and two probes for exon 3, 4 and 18. In addition, 10 reference probes are included in this probemix, detecting several other X-chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) in a DNA sample. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35 50% reduction in relative peak height. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, 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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