General information: The SALSA MLPA Probemix P040 CLL is a research use only (RUO) assay for the detection of deletions or duplications in theTP53 gene on 17p13, the RB1/DLEU/MIR15A-16 -region on 13q14, the ATM gene on 11q22 as well the presence of trisomy 12 in DNA samples obtained from chronic lymphocytic leukemia patients.
B cell chronic lymphocytic leukemia (B-CLL) is the most common hematologic neoplasm in Western countries and results in the progressive accumulation of morphologically mature but are functionally incompetent CD5(+) CD23(+) B lymphocytes in bone marrow, blood, spleen and lymph nodes of the affected person. Chromosomal translocations are rare events in B-CLL. Copy number changes of certain chromosomal regions are however frequent. Some of these have been found to be highly prognostic markers of this disease.
SALSA MLPA probemixes P037 and P038 contain probes for several genomic regions and genes that are recurrently imbalanced in B-CLL. This P040 probemix contains a selection of targeted genes and regions from P037 and P038.
Probemix content: The SALSA MLPA Probemix P040-B2 CLL contains 52 MLPA probes with amplification products between 131 and 497 nucleotides (nt). This includes six probes for the TP53 gene on 17p13, 10 probes for the RB1/DLEU/MIR15A-16 -region on 13q14, seven probes for the ATM gene on 11q22 as well 11 probes on chromosome 12. In addition, 13 reference probes are included that target relatively copy number stable regions in CLL. Complete probe sequences are available online (www.mlpa.com) and the identity of the genes detected by the reference probes is available in the Table 2.
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.