Table of Contents
Forensic Applications of Mitochondrial DNA: Evidence from Pakistani Populations
Last Updated: August 12, 2025
Introduction
What happens when investigators find only a tiny, degraded trace of DNA at a crime scene? In many cases, the answer lies not in the nucleus of a cell but in its energy-producing center — the mitochondrion.
Mitochondrial DNA (mtDNA) has revolutionized forensic science by enabling identification in situations where nuclear DNA is too damaged to analyze. This blog post explores detailed findings from a thesis on the Makrani and Kalashi populations of Pakistan, revealing how mtDNA sequencing works, why it’s so powerful, and what it can tell us in criminal, anthropological, and missing person cases.
Thesis Excerpt & Analysis
“Mitochondrial DNA (mtDNA) analysis has gained importance in forensic investigations especially for cases where the genomic DNA found is highly degraded or very less in quantity. Due to the high copy number of mtDNA in a cell increases the possibility of some copies of mtDNA to be intact in such samples” (p. i).
Why mtDNA is Crucial in Forensics
- High copy number: Each cell contains hundreds to thousands of mtDNA copies, compared to only two copies of nuclear DNA.
- Maternal inheritance: mtDNA passes unchanged from mother to child, enabling lineage tracing.
- Durability: More resistant to degradation in old, burned, or decomposed remains.
The Role of Hypervariable Regions
“In humans, three hypervariable segments (HVSI, HVSII and HVSIII) are found within the control region… the high mutation rate in this region provides enough polymorphism to discriminate between unrelated individuals” (p. 3).
These hypervariable regions are like a unique genetic “barcode,” helping identify individuals and link biological samples to maternal relatives.
Findings in Pakistani Populations
Makrani:
“The high genetic diversity (0.9688) and high power of discrimination (0.9592)… reflects intense gene flow in the Makrani population” (p. ii).
- Highly diverse mtDNA pool ideal for forensic differentiation.
- Lower chance of random matches between unrelated individuals.
Kalashi:
“Extremely low genetic diversity (0.8393)… and higher probability match between two random individuals (0.168)” (p. ii).
- Limited diversity makes unique identification harder.
- Still valuable for linking remains to specific family groups.
Database Importance
“These data would be a valuable contribution to build a database of entire mtDNA control-region sequences… to estimate the rarity of mtDNA profile” (p. ii).
Creating regional mtDNA databases improves match accuracy by providing reference profiles for comparison. This is particularly important in populations with distinct genetic histories.
Applications Beyond Crime
- Identifying missing persons using degraded remains.
- Historical investigations, such as identifying ancient or archaeological skeletons.
- Disaster victim identification when nuclear DNA is unavailable.
Conclusion
Forensic applications of mitochondrial DNA bridge science and justice, enabling investigators to work with even the most challenging evidence. In Pakistan’s Makrani and Kalashi populations, mtDNA analysis offers valuable tools for solving crimes, tracing ancestry, and preserving genetic records for future investigations.
Disclaimer
Disclaimer: Some sentences have been lightly edited for SEO and readability. For the full, original research, please refer to the complete thesis PDF linked in the section above.
Source & Citations
Thesis Title: Genetic Characterization of Mitochondrial DNA in Makrani and Kalashi Population from Pakistan
Researcher: Muhammad Hassan Siddiqi
Guide (Supervisor): Prof. Dr. Tanveer Akhtar
University: University of the Punjab, Lahore, Pakistan
Year of Compilation: 2014
Excerpt Page Numbers: i–iii, 3–4, 56–74
Author Bio
Muhammad Hassan Siddiqi, PhD, is a Pakistani population geneticist with expertise in mitochondrial DNA analysis, forensic anthropology, and human evolutionary genetics. His doctoral work has contributed to advancing forensic DNA databases and understanding maternal lineages in South Asia.
Have you ever thought about how tiny fragments of DNA could solve decades-old mysteries? Share your thoughts or favorite forensic breakthroughs in the comments.
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