General information
The SALSA MLPA
Probemix P389 MLL2 is a
research use only (RUO) assay for the detection of deletions or duplications in the
MLL2 gene, which is associated with Kabuki Syndrome (KS).
KS is a rare syndrome characterised by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS can be caused by mutations in the
MLL2 gene (also known as
KMT2D), encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development. The vast majority of reported cases have been sporadic, but parent-to-child transmission suggests that KS is an autosomal dominant disorder.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK62111/.
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 P389-B1 MLL2 contains 35 MLPA probes with amplification products between 136 and 463 nucleotides (nt). This includes 26 probes for the
MLL2 gene. 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.