The SALSA MLPA Probemix P494 NBN is a research use only (RUO)
assay for the detection of deletions or duplications in the NBN
gene, which is associated with Nijmegen breakage syndrome.
Nijmegen breakage syndrome (NBS) is characterised by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk of cancer, and premature ovarian failure in females. It is inherited in an autosomal recessive manner, but carriers have an increased risk of breast cancer (Bogdanova et al. 2008). The prevalence is unknown, but it is most common in the Central and Eastern European populations. The disease is caused by mutations in the NBN
gene (previously known as NBS1
). The NBN
gene encodes nibrin, which is part of a double-strand break repair protein complex involved in cell-cycle checkpoint regulation (Varon et al. 1998).
gene (16 exons) spans ~51 kb of genomic DNA and is located on chromosome 8q21.3, ~91 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1176/
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.
The SALSA MLPA Probemix P494-A1 NBN contains 27 MLPA probes with amplification products between 172 and 373 nucleotides (nt). This includes 18 probes for the NBN
gene (one probe for each exon, two probes for exon 16 and one upstream probe). 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