SALSA MLPA P148 TGFBR probemix - 50 reactions

application: Aortic aneurysm syndrome
region: TGFBR1 9q22, TGFBR2 3p22 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P148-050R

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Detailní popis SALSA MLPA P148 TGFBR probemix - 50 reactions

P148-050R SALSA MLPA P148 TGFBR1-TGFBR2 probemix – 50 rxn

Mutations in TGFBR1 and TGFBR2 have been reported to cause a new aortic aneurysm syndrome characterized by hypertelorism, bifid uvula and / or cleft palate (Loeys, B. L. et al., 2005, Nat Genet). In addition, mutations in TGFBR2 have been reported to cause Marfan syndrome (Mizuguchi, T. et al., 2004, Nat Genet). The database of genome variants mentions no copy number changes of this genomic region in healthy individuals (see TGFBR1 and TGFBR2 are transmembrane serine / threonine receptor kinases. Growth factor TGFB1 regulates cell cycle progression by a signaling mechanism that involves binding to TGFBR2 and activation of TGFBR1.

The TGFBR1 gene (9 exons) spans ~49.1 kb of genomic DNA and is located on chromosome 9q22, ~100.9 Mb from the p-telomere. The TGFBR2 gene (8 exons) spans ~87.6 kb of genomic DNA and is located on chromosome 3p24, ~30.7 Mb from the p-telomere.

The P148-B1 probemix contains probes for all exons of the TGFBR1 and TGFBR2 genes with the exception of TGFBR2 exon 2 which is only present in one transcript variant. Several probes are present for exon 1 of both genes. In addition, 11 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® kit 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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