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Human Genetics

, Volume 114, Issue 5, pp 484–490 | Cite as

Investigation of the Greek ancestry of populations from northern Pakistan

  • Atika Mansoor
  • Kehkashan Mazhar
  • Shagufta Khaliq
  • Abdul Hameed
  • Sadia Rehman
  • Saima Siddiqi
  • Myrto Papaioannou
  • L. L. Cavalli-Sforza
  • S. Qasim Mehdi
  • Qasim Ayub
Original Investigation

Abstract

Three populations from northern Pakistan, the Burusho, Kalash, and Pathan, claim descent from soldiers left behind by Alexander the Great after his invasion of the Indo-Pak subcontinent. In order to investigate their genetic relationships, we analyzed nine Alu insertion polymorphisms and 113 autosomal microsatellites in the extant Pakistani and Greek populations. Principal component, phylogenetic, and structure analyses show that the Kalash are genetically distinct, and that the Burusho and Pathan populations are genetically close to each other and the Greek population. Admixture estimates suggest a small Greek contribution to the genetic pool of the Burusho and Pathan and demonstrate that these two northern Pakistani populations share a common Indo-European gene pool that probably predates Alexander’s invasion. The genetically isolated Kalash population may represent the genetic pool of ancestral Eurasian populations of Central Asia or early Indo-European nomadic pastoral tribes that became sequestered in the valleys of the Hindu Kush Mountains.

Keywords

Greek Population Chitral Pakistani Population South American Population Autosomal Microsatellite 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

We thank the donors for the samples used in this study. This work was supported by a core grant from the Government of Pakistan to S.Q.M. We are grateful to Dr. I. Kazmi, Dr. A. Talat, and Dr. M. Imran for their assistance in the collection of Pakistani samples. We thank Aisha Mohyuddin and two anonymous reviewers for their helpful comments.

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Atika Mansoor
    • 1
  • Kehkashan Mazhar
    • 1
  • Shagufta Khaliq
    • 1
  • Abdul Hameed
    • 1
  • Sadia Rehman
    • 1
  • Saima Siddiqi
    • 1
  • Myrto Papaioannou
    • 2
  • L. L. Cavalli-Sforza
    • 3
  • S. Qasim Mehdi
    • 1
  • Qasim Ayub
    • 1
  1. 1.Biomedical and Genetic Engineering DivisionDr. A.Q. Khan Research LaboratoriesIslamabadPakistan
  2. 2.Unit of Prenatal Diagnosis, Center for ThalassemiaLaiko General HospitalAthensGreece
  3. 3.Department of GeneticsStanford UniversityStanfordUSA

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