Table of Contents
Mitochondrial DNA in Makrani and Kalashi Populations: Genetic Diversity & Ancestry Insights
Last Updated: August 12, 2025
Introduction
Did you know that a tiny, circular strand of DNA inside your cells can unlock centuries-old migration stories?
Mitochondrial DNA (mtDNA) — inherited only from your mother — acts like a biological passport, preserving genetic clues through generations.
In this post, we explore groundbreaking research that sequenced the mtDNA control region in two unique Pakistani ethnic groups: the Makrani, with historical ties to African ancestry, and the Kalashi, whose origins trace back to ancient West Eurasian lineages.
Using high-resolution forensic techniques, this study uncovers how genetic diversity, haplogroup composition, and maternal inheritance patterns shed light on these populations’ histories. We’ll cover not only the core genetic findings but also the fascinating historical events that shaped them.
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 Matters in Population Genetics
mtDNA is particularly powerful in ancestry studies because it:
- Is inherited maternally without recombination.
- Mutates at a higher rate than nuclear DNA.
- Contains hypervariable segments (HVSI, HVSII, HVSIII) that serve as rich markers for tracing maternal lineages.
Makrani mtDNA Profile
“Based on identified haplotypes, the Makranis showed admixed mtDNA pool consisting of African haplogroups (28%), West Eurasian haplogroups (26%), South Asian haplogroups (24%), and East Asian haplogroups (2%)…” (p. ii).
Key Findings:
- High genetic diversity (0.9688) and strong forensic discrimination power (0.9592).
- Presence of a unique lineage M-154-194, possibly originating from macro-haplogroup M.
- High African haplogroup frequency linked to historical Mozambique Bantu and Fulani connections — likely due to the African slave trade.
Kalashi mtDNA Profile
“In Kalashi population, the dominating haplogroups were West Eurasians (98.2%) while a small proportion (0.9%) of South Asians were also observed” (p. ii).
Key Findings:
- Extremely low genetic diversity (0.8393) and high probability of random matches (0.168).
- Dominance of U4 haplogroup, suggesting deep West Eurasian maternal roots.
- Genetic makeup shaped by invasions and migrations — including Alexander the Great’s army, Arab-Muslim conquests, and British colonial expansion.
Forensic & Anthropological Implications
“These data would be a valuable contribution to build a database of entire mtDNA control-region sequences, which may significantly contribute for both the populations to estimate the rarity of mtDNA profile…” (p. ii).
- Forensics: High Makrani diversity allows precise identification in criminal cases; Kalashi profiles require cautious interpretation due to low variability.
- Anthropology: Offers insight into centuries of trade, migration, and isolation.
Conclusion
The mitochondrial DNA of Makrani and Kalashi populations is more than just a genetic fingerprint — it’s a historical record.
While the Makranis carry a rich blend of African, Eurasian, and Asian maternal lineages, the Kalashi remain a striking example of genetic continuity with West Eurasian roots.
By studying mtDNA, researchers not only advance forensic science but also preserve the hidden stories of human migration and identity.
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, 1–5, 29–74
What do you think — does the Kalashi genetic story surprise you, or did you expect their West Eurasian dominance? Share your thoughts below or pass this article along to someone interested in genetic history.
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