General information
The SALSA MLPA
Probemix P148 TGFBR1-TGFBR2 is a
research use only (RUO) assay for the detection of deletions or duplications in the
TGFBR1 and
TGFBR2 genes, which are associated with Loeys-Dietz aortic aneurysm syndrome (LDS) type Ia and IIa. In addition to LDS, mutations in
TGFBR2 have also been associated with Marfan syndrome and various types of tumours.
The
TGFBR1 gene (9 exons) spans ~49 kb of genomic DNA and is located on chromosome 9q22.33, ~101 Mb from the p-telomere. The
TGFBR2 gene (8 exons) spans ~88 kb of genomic DNA and is located on chromosome 3p24.1, ~31 Mb from the p-telomere.
TGFBR1 and
TGFBR2 encode a transmembrane serine/threonine kinase receptor (type 1 and 2) for transforming growth factor-beta (TGF-ß). TGF-ß receptor type 1 regulates cell cycle progression by a signalling mechanism that involves ligand binding (TGF-ß) and heterodimerization with TGF-ß receptor type 2, resulting in a complex that triggers signal transduction by activation of various proteins in the TGF-ß pathway.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1133/.
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 P148-B4 TGFBR1-TGFBR2 contains 30 MLPA probes with amplification products between 154 and 423 nucleotides (nt). This includes eleven probes for the
TGFBR1 gene, one probe for each exon and two probes upstream of the gene, and nine probes for the
TGFBR2 gene, one probe for each exon with the exception of exon 2 since it is only present in transcript variant 1 and two probes for exon 1 and 4. In addition, ten 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.