General information: The SALSA MLPA Probemix P258 SMARCB1 is a research use only (RUO) assay for the detection of deletions or duplications in the SMARCB1 gene, inactivation of which has been associated with malignant rhabdoid tumours (MRTs).
Rhabdoid tumours are a highly malignant group of neoplasms that usually occur in children under two years of age. MRTs of the kidney were first identified as a sarcomatous variant of Wilms tumours (Beckwith and Palmer, 1978, Cancer. 41:1937-48). Later, extrarenal rhabdoid tumours were reported in numerous locations, including the central nervous system (Parham et al., 1994, Am J Surg Pathol. 18:474-8).
The protein encoded by the SMARCB1 gene (also known as INI1 or SNF5) is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. The SMARCB1 gene has been characterised as a tumour suppressor and is frequently deleted in malignant rhabdoid tumours.
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 P258-C2 SMARCB1 contains 42 MLPA probes with amplification products between 127 and 445 nucleotides (nt). This includes two probes for each exon of the SMARCB1 gene (nine exons). This probemix furthermore contains 10 probes flanking SMARCB1 in 22q11 and 22q12 chromosomal regions. In addition, 14 reference probes are included detecting several different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available in Table 2 and online (www.mlpa.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 (see table below). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.