SALSA MLPA P310 TCOF1 probemix - 100 reactions

application: Treacher Collins-Franceschetti 1
region: TCOF1 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P310-100R

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

Detailní popis SALSA MLPA P310 TCOF1 probemix - 100 reactions

P310-025R SALSA MLPA P310 TCOF1 probemix – 25 rxn

description
Syndrome Treacher Collins-Franceschetti 1 is characterized by abnormal craniofacial development. Defects in the TCOF1 gene on chromosome 5 are the main cause of this disease. This gene encodes a nuclear protein with an LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). The protein encoded by this gene is treacle. This protein is active during early embryonic development in structures that become bones and other tissues in the face.

The TCOF1 gene (28 exons) spans ~43 kb of genomic DNA and is located on 5q33, 149.7 Mb from the p-telomere. The P310-B2 probemix contains one probe for each exon of the gene with the exception of exon 9, 21 and 22. This probemix furthermore contains 10 reference probes, detecting 10 different autosomal chromosomal locations.

This SALSA® MLPA® kit is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) 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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