| Summary: | Acute myeloblastic leukemia (AML) is characterized by uncontrolled proliferation with the bone marrow (BM) of malignant myeloid progenitors arrested in their maturation process and the egress of these abnormal cells into the circulation. There is evidence that neutrophil production is a balance between the proliferative action of granulocyte-colony-stimulating factor (G-CSF) and a negative feedback from mature neutrophils. Recently, there have been reports on mutations in neutrophil elastase (ELA2) gene in genomic DNA of cyclic neutropenia. These patients developed acute myeloblastic leukemia. Therefore, we hypothesized that elastase may play role in the abnormal AML. Peripheral blood was obtained from 42 patients with acute myeloblastic leukemia and 30 healthy individuals. Total RNA was isolated using RNA standard techniques from freshly separated cells by polymorphoprep. RNA was analyzed by employing PCR amplification of reverse transcribed using a total of ten specific primers. We amplified five exons of ELA2 gene separately and sequenced each exon. Mutational analysis was carried out by directed capillary sequencing method. We found no mutation in 42 Acute myeloblastic leukemia patients compared to healthy individuals. Interestingly, we found heterozygote 50% single nucleotide polymorphism (SNP) in exon II codon 44 of healthy individuals but not in AML patients. It was a silent mutation G to A substitution but no changes in amino acid sequences. The codon sequence was GCG that changed to GCA.
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