General information
The 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) and among the genes in this region are CRLF2, CSF2RA and IL3RA. The chromosomal region containing these genes has been linked to lymphoid cell transformation in B-cell ALL. Frequent rearrangements in the PAR1 region are reported in ALL (Russell et al. 2009 and Mullighan et al. 2009), involving 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 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 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 also contains the following flanking probes: four probes telomeric from the CRLF2 gene (for the SHOX gene and SHOX 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 leukemia. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com) and in Table 3 of the product description.

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.