General information
SALSA
® MLPA
® Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 is a
research use only (RUO) assay for the detection of deletions or duplications in the
TGFBR1,
TGFBR2,
TGFB2 and
SMAD3 genes, which are associated with Loeys-Dietz syndrome (LDS). LDS is a connective tissue disorder that can manifest in a variety of ways, amongst others with vascular findings, skeletal manifestations, craniofacial features and cutaneous findings. The severity and nature of symptoms can vary greatly between affected individuals, with significant extravascular systemic findings in young children to predominantly thoracic aortic aneurysm/dissection occurring in adults. LDS individuals were first described with a Marfan syndrome-like phenotype and LDS has some features in common with Marfan syndrome, however LDS and Marfan syndrome are distinct syndromes and have different genetic causes. Pathogenic variants in multiple genes are associated with LDS. The highest proportion of pathogenic variants is found in
TGFBR2, followed by
TGFBR1,
TGFB2 and
SMAD3.
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 (7 exons) spans ~88 kb of genomic DNA and is located on chromosome 3p24.1, ~31 Mb from the p-telomere. The
TGFB2 gene (7 exons) spans ~99 kb and is located on chromosome 1q41, ~217 Mb from the p-telomere. The
SMAD3 gene (9 exons) spans ~130 kb and is located on chromosome 15q22.33, ~65 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1133/.
This product is not CE/FDA registered for use in diagnostic procedures. The SALSA® MLPA® technique is covered by US patent 6,955,901 and corresponding patents outside the US. The purchase of this product includes a license to use only this amount of product solely for the purchaser’s own use.
Probemix content
P148-C1 TGFBR1-TGFBR2-TGFB2-SMAD3 contains 44 MLPA probes with amplification products between 129 and 490 nucleotides (nt). This includes ten probes for
TGFBR1, nine probes for
TGFBR2, six probes for
TGFB2 and nine probes for
SMAD3. 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.