Journal of Human Genetics

, Volume 50, Issue 10, pp 497–506 | Cite as

Human mtDNA hypervariable regions, HVR I and II, hint at deep common maternal founder and subsequent maternal gene flow in Indian population groups

  • Swarkar Sharma
  • Anjana Saha
  • Ekta Rai
  • Audesh Bhat
  • Ramesh Bamezai
Original Article


We have analysed the hypervariable regions (HVR I and II) of human mitochondrial DNA (mtDNA) in individuals from Uttar Pradesh (UP), Bihar (BI) and Punjab (PUNJ), belonging to the Indo-European linguistic group, and from South India (SI), that have their linguistic roots in Dravidian language. Our analysis revealed the presence of known and novel mutations in both hypervariable regions in the studied population groups. Median joining network analyses based on mtDNA showed extensive overlap in mtDNA lineages despite the extensive cultural and linguistic diversity. MDS plot analysis based on Fst distances suggested increased maternal genetic proximity for the studied population groups compared with other world populations. Mismatch distribution curves, respective neighbour joining trees and other statistical analyses showed that there were significant expansions. The study revealed an ancient common ancestry for the studied population groups, most probably through common founder female lineage(s), and also indicated that human migrations occurred (maybe across and within the Indian subcontinent) even after the initial phase of female migration to India.


Indian populations Mitochondrial DNA Matrilineal HVR I and II 


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Copyright information

© The Japan Society of Human Genetics and Springer-Verlag 2005

Authors and Affiliations

  • Swarkar Sharma
    • 1
  • Anjana Saha
    • 1
  • Ekta Rai
    • 1
  • Audesh Bhat
    • 1
  • Ramesh Bamezai
    • 1
  1. 1.National Centre of Applied Human Genetics, School of Life SciencesJawaharlal Nehru UniversityNew DelhiIndia

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