Logo of ajhgLink to Publisher's site
Am J Hum Genet. 1996 Oct; 59(4): 927–934.
PMCID: PMC1914800

Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms.


About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Pradesh and Andhra Pradesh and in 163 Mediterranean Caucasoids. Moreover, 30 Indian DdeI(10,394)Alu(10,397) (++) mtDNAs were typed by the "high-resolution restriction analysis" with 14 endonucleases to estimate their divergence time. The results obtained are the following: (1) The RFLPs analysis has displayed some Caucasoid types as in Indians of Uttar Pradesh; (2) the AluI(7,025) (-) allele, which defines the most frequent Caucasoid-specific lineage (haplogroup H), ranges from 18% to 45% in the Mediterranean Caucasoids, whereas it has shown low frequencies in Punjab (6.0%) and in Uttar Pradesh (1.8%) and was not found in Andhra Pradesh; (3) the DdeI(lO,394)AluI(10,397) (+ +) haplotype, which although previously was considered an East Asian marker (haplogroup M) and was found very frequently in India, is also frequent in Punjab (27%); this frequency is, however, much lower than in Uttar Pradesh (49%) and in Andhra Pradesh (74%), and a gradient decreasing from south to north is therefore observed; (4) the divergence time of the Indian DdeI(10,394)AluI(10,397) (++) mtDNAs has been estimated to be 30,250-60,500 years, a value that is compatible with that of the homologous East Asian lineage. These results strongly support the hypothesis that the DdeI(10,394)AluI(10,397) (++) haplotype predated the Indo-European invasion and probably the split between proto-Indians and proto-Orientals. Its frequency cline well reflects the major influence of Indo-Europeans in the north and in the center of India.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.4M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA, Hassan K, Chen KH, Wallace DC. Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics. 1992 Jan;130(1):139–152. [PMC free article] [PubMed]
  • Brega A, Mura G, Caccio S, Semino O, Brdicka R, Santachiara-Benerecetti AS. MtDNA polymorphisms in a sample of Czechoslovaks and in two groups of Italians. Gene Geogr. 1994 Apr;8(1):45–54. [PubMed]
  • Cann RL, Stoneking M, Wilson AC. Mitochondrial DNA and human evolution. Nature. 1987 Jan 1;325(6099):31–36. [PubMed]
  • Cavalli-Sforza LL, Menozzi P, Piazza A. Demic expansions and human evolution. Science. 1993 Jan 29;259(5095):639–646. [PubMed]
  • Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC. Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet. 1995 Jul;57(1):133–149. [PMC free article] [PubMed]
  • Corbo RM, Tartaglia M, Scacchi R, Rickards O, Dash S, Sharma SK, Ramdeo IN, Sangatramani TC, Vyas M, Modiano G. A survey of six genetic markers on the populations of Punjab and Rajasthan (India). Gene Geogr. 1991 Dec;5(3):113–121. [PubMed]
  • Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. [PubMed]
  • Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19(3-4):255–271. [PubMed]
  • Mountain JL, Hebert JM, Bhattacharyya S, Underhill PA, Ottolenghi C, Gadgil M, Cavalli-Sforza LL. Demographic history of India and mtDNA-sequence diversity. Am J Hum Genet. 1995 Apr;56(4):979–992. [PMC free article] [PubMed]
  • Passarino G, Semino O, Modiano G, Bernini LF, Santachiara Benerecetti AS. mtDNA provides the first known marker distinguishing proto-Indians from the other Caucasoids; it probably predates the diversification between Indians and Orientals. Ann Hum Biol. 1996 Mar-Apr;23(2):121–126. [PubMed]
  • Passarino G, Semino O, Modiano G, Santachiara-Benerecetti AS. COII/tRNA(Lys) intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (southern Nepal) have Oriental affinities. Am J Hum Genet. 1993 Sep;53(3):609–618. [PMC free article] [PubMed]
  • Sartoris S, Varetto O, Migone N, Cappello N, Piazza A, Ferrara GB, Ceppellini R. Mitochondrial DNA polymorphism in four Sardinian villages. Ann Hum Genet. 1988 Oct;52(Pt 4):327–340. [PubMed]
  • Santachiara Benerecetti AS, Scozzari R, Semino O, Torroni A, Brega A, Wallace DC. Mitochondrial DNA polymorphisms in Italy. II. Molecular analysis of new and rare morphs from Sardinia and Rome. Ann Hum Genet. 1988 Jan;52(Pt 1):39–56. [PubMed]
  • Scozzari R, Torroni A, Semino O, Sirugo G, Brega A, Santachiara-Benerecetti AS. Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms. Am J Hum Genet. 1988 Oct;43(4):534–544. [PMC free article] [PubMed]
  • Semino O, Torroni A, Scozzari R, Brega A, Santachiara Benerecetti AS. Mitochondrial DNA polymorphisms among Hindus: a comparison with the Tharus of Nepal. Ann Hum Genet. 1991 May;55(Pt 2):123–136. [PubMed]
  • Tartaglia M, Scacchi R, Corbo RM, Pompei F, Rickards O, Ciminelli BM, Sangatramani T, Vyas M, Dash S, Modiano G. Genetic heterogeneity among the Hindus and their relationships with the other "Caucasoid" populations: new data on Punjab-Haryana and Rajasthan Indian states. Am J Phys Anthropol. 1995 Nov;98(3):257–273. [PubMed]
  • Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet. 1994 Oct;55(4):760–776. [PMC free article] [PubMed]
  • Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, Droma T, Wallace DC. Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol. 1994 Feb;93(2):189–199. [PubMed]
  • Torroni A, Neel JV, Barrantes R, Schurr TG, Wallace DC. Mitochondrial DNA "clock" for the Amerinds and its implications for timing their entry into North America. Proc Natl Acad Sci U S A. 1994 Feb 1;91(3):1158–1162. [PMC free article] [PubMed]
  • Torroni A, Sukernik RI, Schurr TG, Starikorskaya YB, Cabell MF, Crawford MH, Comuzzie AG, Wallace DC. mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet. 1993 Sep;53(3):591–608. [PMC free article] [PubMed]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics


Save items

Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...