General information
The SALSA MLPA
Probemix P196 TNNT2-BAG3 is a
research use only (RUO) assay for the detection of deletions or duplications in the
TNNT2 and
BAG3 genes, which are associated with dilated cardiomyopathy (DCM).
Defects in the
TNNT2 gene are associated with familial hypertrophic cardiomyopathy as well as DCM. The protein encoded by
TNNT2 gene is the tropomyosin-binding subunit of the troponin complex, which regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Copy number changes of the
BAG3 gene have also been found to be a cause for some cases of DCM (Norton et al. 2011). The
BAG3 gene is a member of the Bcl2-associated athanogene (BAG) family proteins, which causes cardiomyopathy and myofibrillar myopathy and is characterized by myofibril and Z-disc disruption.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1768/ and
https://www.ncbi.nlm.nih.gov/books/NBK1309/.
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 P196-B2 TNNT2-BAG3 contains 30 MLPA probes with amplification products between 130 and 373 nucleotides (nt). This includes 17 probes for the
TNNT2 gene, one probe for each exon with the exception of exon 13 and two probes for exon 17, and four probes for the
BAG3 gene, one probe for each exon. In addition, nine 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.