Study of Akt1 Gene Intronic Variant in Chronic Myeloid Leukemia

Chronic myelogenous leukemia (CML) is a hematological malignancy characterized by the translocation of 9th and 22nd chromosome. It results in the formation of a fusion gene, Bcr-Abl with increased tyrosine kinase activity which interferes with cellular proliferation, cell death and activates various downstream pathways. Despite the presence of targeted drug, Imatinib mesylate, many patients tend to develop resistance, which could be because of deregulation of genes involved in various pathways. Akt is one of the most important gene being activated by Bcr-Abl. This gene is known to regulate multiple biological processes including cell survival, proliferation, growth, and glycogen metabolism. SNPs in this gene is found to affect the normal functioning of the gene. Hence, the present study was planned to evaluate the SNP in the intronic region to understand the role of this polymorphism in the development and progression of CML.100 blood samples (50 CML cases, from Nizams Institute of Medical Sciences and 50 age and gender matched control from local population) was collected and analyzed.