Abstract :
Mutations acquired in the RNA Splicing Factor 3B sub-unit 1 (SF3B1) gene encoding are very highly related to the subtypes of ring sideroblasts of Myelodysplastic Syndromes (MDS), representing a particular nosological body. These mutations have different and contrasting effects on clinical outcomes. To identify mutation patterns that affect disease phenotype and clinical outcome, we performed a mutation analysis in 50 MDS patients with the aim of identifying mutation patterns that affect disease phenotype and clinical outcome as serum ferritin level. In present study, Serum ferritin was measured by using Mini Vidas automated immunoassay system based on Enzyme Linked Fluorescent Assay. SF3B1 mutation detected depend on DNA Sequencing of PCR amplicons and by comparing the observed DNA sequences of the investigated samples with the retrieved neighboring DNA sequences of the NCBI Blastn engine, the virtual positions and other details of the retrieved PCR fragments were identified. Then, the dbSNP position for the detected SNP was documented in rs3217350 with TT insertion. Sequencing analysis also detected mutant II genotype in 92.5% of patients that associated with increase serum ferritin (1003.41ng/ml) in compared with control group or patients with wild DD genotype who have low serum level of ferritin (81.9828ng/ml and 355.04 ng/ml respectively). In conclusion, mutant II genotype act as etiological factor for MDS and significantly associated with increase serum level of ferritin.
