International Journal of Legal Medicine

, Volume 124, Issue 3, pp 195–204 | Cite as

The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns

  • Jodi A. IrwinEmail author
  • Abror Ikramov
  • Jessica Saunier
  • Martin Bodner
  • Sylvain Amory
  • Alexander Röck
  • Jennifer O’Callaghan
  • Abdurakhmon Nuritdinov
  • Sattar Atakhodjaev
  • Rustam Mukhamedov
  • Walther Parson
  • Thomas J. Parsons


In order to better characterize and understand the mtDNA population genetics of Central Asia, the mtDNA control regions of over 1,500 individuals from Uzbekistan have been sequenced. Although all samples were obtained from individuals residing in Uzbekistan, individuals with direct ancestry from neighboring Central Asian countries are included. Individuals of Uzbek ancestry represent five distinct geographic regions of Uzbekistan: Fergana, Karakalpakstan, Khorezm, Qashkadarya, and Tashkent. Individuals with direct ancestry in nearby countries originate from Kazakhstan, Kyrgyzstan, Russia, Afghanistan, Turkmenistan, and Tajikistan. Our data reinforce the evidence of distinct clinal patterns that have been described among Central Asian populations with classical, mtDNA, and Y-chromosomal markers. Our data also reveal hallmarks of recent demographic events. Despite their current close geographic proximity, the populations with ancestry in neighboring countries show little sign of admixture and retain the primary mtDNA patterns of their source populations. The genetic distances and haplogroup distributions among the ethnic populations are more indicative of a broad east–west cline among their source populations than of their relatively small geographic distances from one another in Uzbekistan. Given the significant mtDNA heterogeneity detected, our results emphasize the need for heightened caution in the forensic interpretation of mtDNA data in regions as historically rich and genetically diverse as Central Asia.


mtDNA population data Central Asia Forensics Control region Coding region SNPs 



The authors would like to thank Kimberly Sturk, Toni Diegoli, Katharine Strouss, Carla Paintner, Daniela Niederwieser, Bettina Zimmermann, and Gabriela Huber for excellent technical assistance; collaborators Dilobar Akhmedova, and Nizom Rakhmatullaev; Nina Duftner for data analysis; Rebecca Just, Michael Coble, and Ibrokhim Abdurakhmanov for helpful discussion; and the Armed Forces Institute of Pathology, the American Registry of Pathology, James Canik, Brion Smith, and Louis Finelli for logistical and administrative support. Part of this research received support from the FWF Austrian Science Fund (L397). The opinions and assertions contained herein are solely those of the authors and are not to be construed as official or as views of the U.S. Department of Defense, the U.S. Department of the Army, or the U.S. Department of Justice.

Supplementary material

414_2009_406_MOESM1_ESM.pdf (555 kb)
Supplementary Table 1 MtDNA haplotypes from 1,575 individuals residing in Uzbekistan, listed as differences from the rCRS. Haplotypes are preceded by a header line (denoted with a #! symbol) which specifies the sites assayed for a given set of samples. In all cases, the entire control region was sequenced. Samples are labeled according to: AFG (Afghanistan), KYR (Kyrgyzstan), KAZ (Kazakhstan), RUS (Russia), TAJ (Tajikistan), TUR (Turkmenistan), FER (Uzbekistan–Fergana), KAR (Uzbekistan–Karakalpakstan), QAS (Uzbekistan–Qashkadarya), TAS (Uzbekitan–Tashkent), XOR (Uzbekistan–Khorezm) (PDF 339 kb)
414_2009_406_MOESM2_ESM.doc (148 kb)
Supplementary Table 2 Фst values for regional subpopulations of Uzbekistan with Uzbek ancestry. Values are not significant at the 0.05 level after Bonferroni correction. (DOC 148 kb)
414_2009_406_MOESM3_ESM.docx (12 kb)
Supplementary Table 3 Фst values for ethnic populations of Uzbekistan. All values are statistically significant at the 0.05 level after Bonferroni correction (DOC 12.0 kb)


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Jodi A. Irwin
    • 1
    Email author
  • Abror Ikramov
    • 2
  • Jessica Saunier
    • 1
  • Martin Bodner
    • 3
  • Sylvain Amory
    • 4
  • Alexander Röck
    • 5
  • Jennifer O’Callaghan
    • 1
  • Abdurakhmon Nuritdinov
    • 2
  • Sattar Atakhodjaev
    • 2
  • Rustam Mukhamedov
    • 6
  • Walther Parson
    • 3
  • Thomas J. Parsons
    • 4
  1. 1.Research DepartmentArmed Forces DNA Identification Laboratory (AFDIL)RockvilleUSA
  2. 2.Republican Centre of Forensic ExpertiseTashkentRepublic of Uzbekistan
  3. 3.Institute of Legal MedicineInnsbruck Medical UniversityInnsbruckAustria
  4. 4.International Commission on Missing PersonsSarajevoBosnia and Herzegovina
  5. 5.Institute of MathematicsUniversity of InnsbruckInnsbruckAustria
  6. 6.Institute of Genetics and Plant Experimental BiologyAcademy of Sciences of UzbekistanYuqori YuzRepublic of Uzbekistan

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