General information
The SALSA MLPA
Probemix P445 KDM6A is a
research use only (RUO) assay for the detection of deletions or duplications in the
KDM6A gene, which is associated with Kabuki syndrome.
Kabuki syndrome is a rare congenital disorder characterised by intellectual disability, growth delays and distinctive facial features. Type 1 Kabuki syndrome (KS1) has been linked to mutations in the
MLL2 gene (also known as
KMT2D), while Type 2 Kabuki syndrome (KS2) has been associated with the X-chromosomal
KDM6A gene, also known as
UTX and
KABUK2.
KDM6A encodes a histone demethylase that interacts with
MLL2.
The
KDM6A gene (30 exons) spans ~240 kb of genomic DNA and is located on Xp11.3, about 45 Mb from the p-telomere.
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 P445-A3 KDM6A contains 41 MLPA probes with amplification products between 130 and 463 nucleotides (nt). This includes 32 probes for the
KDM6A gene, one probe for each exon (with the exception of exon 14) and two probes for exon 3, 4 and 19. In addition, nine reference probes are included that detect locations on the X-chromosome. 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.