Identification of Mutations in GATA2 Gene in Adult Bengali Bangladeshi Acute Myeloid Leukemia (AML) Patients

Abstract

AML is a malignant disease of the bone marrow in which hematopoietic precursors are arrested in an early stage of development due to genetic alterations in normal hematopoietic stem cells. Several genes are identified for the disease and GATA2 gene is one of the important genes among them because mutations of GATA2 gene suppress leukemogenesis. In a country like Bangladesh, genetic services are at an early stage of development or even not yet developed. There is no adequate reporting on GATA2 gene mutations in adult Bengali Bangladeshi AML patients. The aim of the study was to determine the mutations of GATA2 gene in AML patients in the adult Bengali Bangladeshi population. The present study was a cross-sectional type of descriptive study. The study was carried out in the Genetic Research Center (GRC) of the Department of Anatomy, Bangabandhu Sheikh Mujib Medical University (BSMMU), Bangladesh during the period of January 2018 to December 2018. The study includes 50 adult Bengali Bangladeshi AML patients. Informed written consent was obtained from the participants. For identifying the mutations peripheral venous blood was obtained from each patient and sequencing was done using ABI Sanger Sequencer 3730. Research shows the mean age is 25±14.2 and average age group of adult AML patients of Bengali Bangladeshis is 18-29 years (54%), among them 31 (62%) and 19 (38%) were females and males respectively. GATA2 gene mutations were identified in 1 of the 50 AML patients and shows synonymous, frameshift and missense variant compared with the database of dbSNP. Identification of different variant with this small sample size emphasizes the importance of exploring the genetic makeup of adult Bengali Bangladeshi AML patients to develop a database for proper screening and genetic counseling of the disease.