Unique but Diverse Mutational Profile of Some Tumor Suppressor Genes in Acute Myeloid Leukemia Patients from Pakistan | [Abstract Book on Global Science Technology and Management Conference • 2023]

Author(s):

1. Samina Ejaz: Department of Biochemistry, Institute of Biochemistry, Biotechnology and Bioinformatics (IBBB), The Islamia University of Bahawalpur, Bahawalpur, Pakistan

2. Yasir Hameed: Department of Biochemistry, Institute of Biochemistry, Biotechnology and Bioinformatics (IBBB), The Islamia University of Bahawalpur, Bahawalpur, Pakistan

3. Anum Raashid: Department of Biochemistry, Institute of Biochemistry, Biotechnology and Bioinformatics (IBBB), The Islamia University of Bahawalpur, Bahawalpur, Pakistan

Abstract:

Leukemia is a malignant disorder in which mutated myoblasts and lymphoblasts proliferate abnormally and get accumulated in blood, marrow and lymph nodes. Annually 13.7 new cases are reported per 100,000 in men and woman. BRCA1 and TP53 both are the tumor suppressor genes. The proteins encoded by both genes play key role in many essential biological processes like DNA repair process, cell cycle regulation and homologous recombination. We screened acute myeloid leukemia patients from Southern, Punjab Pakistan to investigate the nature and impact of BRCA1 and TP53 mutations existing in their genomes. Different regions of both genes were amplified using DNA extracted from blood of leukemia patients as template. The PCR amplification was followed by DNA sequence analysis and bioinformatics analysis to determine the functional impact of the detected mutations on structure and function of encoded proteins. Results revealed variety (deletion, insertion, substitution and frame shift mutations) of novel mutations in BRCA1 and TP53. Various frame shift mutations generated premature termination codon and led to the synthesis of non-functional TP53 protein. Similarly many of the observed mutations disrupted the C terminal domain of BRCA1 protein making it unable to bind with DNA and regulate expression of target genes. This study suggests the role of BRCA1 and TP53 mutations in pathogenesis of leukemia and thus demands extensive exploration in future.

Page(s): 61-61

DOI: DOI not available

Published: Journal: Abstract Book on Global Science Technology and Management Conference, Volume: 0, Issue: 0, Year: 2023

Keywords:

BRCA1 , Leukemia , TP53 , mutations

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