General information
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/.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P310-B4 TCOF1 contains 35 MLPA probes with amplification products between 136 and 436 nucleotides (nt). This includes 25 probes for the
TCOF1 gene, one probe for each exon of the gene with the exception of exons 8, 19 and 20 and a probe each for intron 6 and 16. In addition, 10 reference probes are included that detect autosomal chromosomal locations). Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.