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Pharmacogenetic Evaluation of Methyl cytosine Dioxygenase 2 Profiles in Nigeria for Acute Myeloid Leukaemia Therapeutics

Ojochogwu Francis Omale,, Corresponding author

Abstract

Acute myeloid leukaemia is a genetically heterogeneous haematological malignancy in which alterations of the methylcytosine dioxygenase 2 gene contribute significantly to disease development and progression. This study investigated the molecular characteristics, sequence variation, and evolutionary relationships of methylcytosine dioxygenase 2 gene sequences obtained from AML patients and healthy controls from Nigeria. A total of 25 methylcytosine dioxygenase 2 nucleotide sequences, comprising 12 AML and 13 normal samples, were retrieved from the National Centre for Biotechnology Information database. Multiple sequence alignment, phylogenetic reconstruction, and distance matrix analyses were performed using Geneious version 9.1.8. The alignment generated an overall length of 876 nucleotides with 787 conserved sites, corresponding to 89.8% sequence identity and 99.0% pairwise identity. Sequence lengths ranged from 536 to 874 base pairs, while GC content varied between 39.9% and 40.8%. Comparative analysis revealed notable nucleotide substitutions and deletion events, particularly within AML-derived sequences. Phylogenetic analysis using the Neighbour-Joining method and Tamura–Nei distance model demonstrated distinct clustering patterns, with normal sequences positioned closer to the ancestral root and AML sequences exhibiting greater evolutionary divergence. Distance matrix analysis confirmed both high sequence conservation and measurable genetic diversity among samples. These findings demonstrate the evolutionary conservation of methylcytosine dioxygenase 2 alongside disease-associated genetic variations in AML and provide insight into the molecular heterogeneity of AML within the Nigeria population. The study highlights the potential value of methylcytosine dioxygenase 2 as a molecular biomarker for future diagnostic, prognostic, and pharmacogenetic investigations.

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