Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P390 TBX4 -17q23 probemix - 50 reactions

SALSA MLPA P390 TBX4 -17q23 probemix - 50 reactions

SALSA MLPA P390 TBX4 -17q23  probemix - 50 reactions

application: Small Patella Syndrome
region: TBX4, TBX2, 17q23.1-q23.2 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P390-050R

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

Detailní popis SALSA MLPA P390 TBX4 -17q23 probemix - 50 reactions

Ischiopatellar dysplasia, also known as Small Patella Syndrome, is an autosomal dominant skeletal dysplasia. It is characterized by patellar aplasia or hypoplasia, as well as anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.
Defects in the T-box transcription factor TBX4 gene on chromosome 17 is the main cause of Small Patella Syndrome. The protein encoded by this gene is TBX4 which has been established to be important in the developmental pathways of the lower limbs and the pelvis in humans. Microduplications in the 17q23.1-q23.2 have also been associated with clubfoot etiology, linking this medical condition to early limb development (Alvarado et al., 2010).

The TBX4 gene (8 exons) spans ~27 kb of genomic DNA and is located on 17q23, 56 Mb from the p-telomere. The P390-A1 probemix contains one probe for each exon of TBX4 and two probes for exon 8.

This probemix furthermore contains several probes for surrounding genes, such as the TBX2 region (5 probes), as well as probes for regions upstream and downstream of the TBX2 and TBX4 genes, in the 17q region. Microdeletions in TBX2 have been linked to congenital microcephaly (Nimmakayalu et al., 2011). In addition, 11 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

SALSA® MLPA® probemixes are 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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