General information
SALSA
® MLPA
® Probemix P329 CRLF2-CSF2RA-IL3RA is a
research use only (RUO) assay for the detection of deletions or duplications in the
CRLF2,
CSF2RA and
IL3RA genes, which are associated with B-cell acute lymphoblastic leukaemia (ALL).
The first 3 Mb of the X and Y chromosomes are homologous and are called the pseudoautosomal region 1 (PAR1). Among the genes in this PAR1 region are
CRLF2,
CSF2RA and
IL3RA. The chromosomal region containing these genes has been linked to lymphoid cell transformation in B-ALL. Frequent rearrangements in the PAR1 region are reported in ALL (Russell et al. 2009 and Mullighan et al. 2009), including a deletion of the
IL3RA and
CSF2RA genes resulting in the overexpression of the
CRLF2 gene in 7% of individuals with B-progenitor ALL and 53% of individuals with ALL associated with Down syndrome. Deletions in the PAR1 region in ALL are an indication for poor prognosis (Mullighan et al. 2009), especially when combined with other gene deletions such as
IKZF1,
CDKN2A,
CDKN2B and
PAX5 (Stanulla et al. 2018, Kiss et al. 2020).
This product is not CE/FDA registered for use in diagnostic procedures. The SALSA® MLPA® technique is covered by US patent 6,955,901 and corresponding patents outside the US. The purchase of this product includes a license to use only this amount of product solely for the purchaser’s own use.
Probemix content
P329-B1 CRLF2-CSF2RA-IL3RA contains 47 MLPA probes with amplification products between 124 and 494 nucleotides (nt). This includes five probes for
CRLF2, 13 probes for
CSF2RA and seven probes for
IL3RA gene. Furthermore, this probemix contains the following flanking probes: four probes telomeric from the
CRLF2 gene (for the
SHOX gene and SHOX downstream area) and four probes centromeric from the
IL3RA gene (for
P2RY8,
ZBED1 and
CD99 genes). In addition, 14 reference probes are included that target relatively copy number stable regions in various cancer types including acute lymphoblastic leukaemia. 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.