REVIEW: THE ROLE OF MITOCHONDRIAL DNA IN HUMAN IDENTIFICATION

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Hina Khanzada
Dr Ishrat Bibi
Memoona Laghari
Savera Talpur
Gulsher Junejo
Uzain Khan
Abdul Rauf Khokhar

Abstract

Background


Mitochondrial DNA is a genetic material found within the mitochondria of a cell. It is a circular, double-stranded molecule that is exclusively inherited from mother. Mitochondrial DNA is helpful in human identification when nuclear DNA is insufficient due to its high copy number and resistance towards environmental degradation.


Objective


This review aims to synthesize the current understanding of mitochondrial DNA’s structure, its specific role in forensic investigations and the technological advancements in sequencing that have enhanced its analytical sensitivity.


Methodology


To compose this review, more than twenty research and review articles published over the past two decades were examined. Literature was collected from reputable scientific databases, including PubMed, ResearchGate and Web of Science. Emphasis was placed on studies discussing the forensic applicability, sequencing techniques and limitations of mitochondrial DNA analysis.


Result


The literature reviewed indicates that mitochondrial DNA analysis has significantly improved identification in cases involving aged, degraded, or limited biological samples. The hypervariable regions (HVR1 and HVR2) are the most frequently analyzed portions using Polymerase chain reaction amplification followed by Sanger sequencing. Although mitochondrial DNA has lower discriminatory power than nuclear DNA, it remains a critical tool in maternal lineage analysis and mass disaster investigation.


Conclusion


Mitochondrial DNA has proven to be a robust and reliable method for human identification, particularly in degraded samples. The integration of Next-Generation Sequencing and the expansion of forensic mitochondrial DNA databases are expected to further enhance accuracy, sensitivity and global standardization in forensic genetics.

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How to Cite

REVIEW: THE ROLE OF MITOCHONDRIAL DNA IN HUMAN IDENTIFICATION. (2026). The Research of Medical Science Review, 4(2), 299-304. https://medicalsciencereview.com/index.php/Journal/article/view/3147