Comparison of two molecular methods for detection of EBF1 gene copies number abnormalities in Patients with Acute Lymphoblastic Leukemia

Background: Despite advances in diagnosis, still need a screening method in patients with acute lymphoblastic leukemia (ALL), yet. Our aim is to evaluate Multiplex Ligation-dependent Probe Amplification (MLPA) method ability for screening patients with ALL.Material and Methods: Samples were obtained from 45 childhood patients with B-cell ALL. EBF1 gene copy number abnormalities (CANs) were studied by this method and qPCR. In last we confirm our results by sequencing. Results: From 45 patients with B-ALL, 7 (15%) patients, showed CNAs by MLPA method. 14 (18%) from all mutations, were seen in EBF1 gene and from all these, 3 samples showed changes in exon 10 that were evaluated by qPCR. We used Sanger sequencing as a gold standard method to compare the two methods. Conclusion: Screening mutations of genes involved in acute leukemia remains a challenge in the diagnostic laboratory. MLPA a rapid and valid method for screening genes mutations.

Keywords:

acute lymphoblastic leukemia , copy number abnormality , MLPA , qPCR