SALSA MLPA Probemix P310 TCOF1 detects copy number variations in the TCOF1 gene.
Contents: 35 MLPA probes, including 25 probes for TCOF1.
Tissue: human genomic DNA.
Application: research on Treacher Collins-Franceschetti 1 syndrome.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P310 TCOF1 is a research use only (RUO) assay for the detection of deletions or duplications in the TCOF1 gene, which is associated with Treacher Collins-Franceschetti 1 syndrome.
Treacher Collins-Franceschetti 1 syndrome 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 a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). The protein encoded by TCOF1 is treacle. This protein is active during early embryonic development in structures that become bones and other tissues in the face.
The TCOF1 gene (26 exons) spans ~43 kb of genomic DNA and is located on 5q33.1, about 150 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1532/.
SALSA MLPA Probemix P310 TCOF1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.