Mitochondrial DNA variation in ranked caste groups of Maharashtra (India) and its implication on genetic relationships and origins

Ann Hum Biol. 2003 Jul-Aug;30(4):443-54. doi: 10.1080/0301446031000111410.


Background: Polymorphism in mitochondrial DNA have been proven to be useful in studying genetic relationships and origins. The origins of caste populations have remained an enigma and genetic relationships among ranked caste groups are not uniform across geographical regions in India.

Aim: This study was undertaken to investigate the nature and extent of mtDNA variation and relationships among caste groups of the western Indian State of Maharashtra and examine the implication of the results on their origins.

Subjects and methods: One population was selected from each of the three caste ranks and blood samples were obtained with informed consent from unrelated individuals. The ranked caste populations were: upper (Brahmin; n=31), middle (Maratha; n=41), and lower (Nava Baudh; n=40). Ten relevant restriction site polymorphisms (RSPs) and one Insertion/Deletion (InDel) polymorphism were studied. The Hypervariable Segment 1 (HVS1) was sequenced in a subset of sampled individuals.

Results: Four RSP loci were found to be monomorphic in all populations. The InDel locus was monomorphic in two (Brahmin and Maratha) populations. One haplotype, constructed on the basis of the RSPs, was found to be predominant in all populations. Haplotype diversity was of similar magnitudes among Maratha and Nava Baudh (68% and 64%, respectively), and was much higher than among the Brahmin (49%). The frequency of haplogroup M was found to be high in all three groups, but, contrary to expectations, was highest in the upper caste Brahmin. About 10% of Brahmins, however, possessed the haplogroup C. Extensive variation was found in the HVS1 region. The nucleotide diversities and mean number of mismatches were found to be of similar magnitudes in all three groups.

Conclusions: The upper caste group, Brahmin, is genetically distinct from the middle and lower caste groups. However, in view of the highest frequency of haplogroup M among the Brahmin, it appears that there may have been recruitment from other populations into this group.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial*
  • Ethnicity / genetics*
  • Gene Frequency
  • Genetics, Population*
  • Haplotypes*
  • Humans
  • India
  • Mutation
  • Phylogeny
  • Polymorphism, Genetic*
  • Sequence Analysis, DNA


  • DNA, Mitochondrial