General information: The SALSA MLPA
Probemix P122 NF1-area is a
research use only (RUO) assay for the detection of deletions or duplications in the region surrounding the neurofibromin 1 (
NF1) gene on chromosome 17q11.2, which is associated with neurofibromatosis.
Neurofibromatosis is an autosomal dominant disorder characterised by café-au-lait spots and fibromatous tumours of the skin. Neurofibromatosis type I (NF1) is caused by defects in the
NF1 gene on chromosome 17q11.2. NF1
is a cytoplasmic protein predominantly expressed in neurons, Schwann cells and leukocytes. Neurofibromatosis type II is caused by defects in the
NF2 gene on chromosome 22q12.2.
Partial deletions of the
NF1 gene as well as deletions and duplications of the complete
NF1 gene have been described. A deletion of a 1500 kb chromosomal region on 17q11.2 that includes the
NF1 gene accounts for 5-10% of NF1 cases. This interstitial 17q11.2 microdeletion arises from unequal crossover between two highly homologous 60 kb duplicons. The phenotype related to the 17q11.2 microdeletion is usually much more severe than most other NF1 cases and may include severe developmental delay.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1109/.
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 P122-D2 NF1-area contains 35 MLPA probes with amplification products between 129 and 416 nucleotides (nt). This includes 25 probes for the
NF1 area on chromosome 17q11.2. 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.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. 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.