General information
The SALSA MLPA
Probemix P472 SUFU is a
research use only (RUO) assay for the detection of deletions or duplications in the
SUFU gene, which is associated with Gorlin syndrome and predisposition to several cancer types.
The
SUFU gene (OMIM 607035) encodes a component of the Sonic hedgehog (SHH)/Patched (PTCH) signalling pathway. Mutations in the
SUFU gene are expected to result in the same clinical phenotype as mutations in the better known
PTCH1 gene (OMIM 601309). Screening for the
SUFU gene is therefore suggested when the
PTCH1 gene is wildtype in patients with clinical basal cell nevus (Gorlin) syndrome (OMIM#109400). Germline mutations in the
SUFU gene are suggested to predispose to infant desmoplastic/ nodular medulloblastomas, basal cell carcinomas and meningiomas. This
SUFU susceptibility gene shows autosomal dominant inheritance with an incomplete penetrance. In addition to point mutations, both whole
SUFU gene duplications and partial
SUFU gene deletions have been described (Brugieres et al. 2012; Smith et al. 2014; Kenawy et al. 2019).
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1151/
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 P472-A1 SUFU contains 30 MLPA probes with amplification products between 121 and 317 nucleotides (nt). This includes 15 probes for the
SUFU gene and two probes flanking the
SUFU gene. In addition, 13 reference probes are included that target relatively copy number stable regions in meningiomas and medulloblastomas. Complete probe sequences and the identity of the genes detected by the reference probes are available in Table 3 and 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.