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

Jodi A. Irwin, Abror Ikramov, Jessica Saunier, Martin Bodner, Sylvain Amory, Alexander Röck, Jennifer O'Callaghan, Abdurakhmon Nuritdinov, Sattar Atakhodjaev, Rustam Mukhamedov, Walther Parson, Thomas J. Parsons

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)195-204
Number of pages10
JournalInternational Journal of Legal Medicine
Volume124
Issue number3
DOIs
Publication statusPublished - May 1 2010

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All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Irwin, J. A., Ikramov, A., Saunier, J., Bodner, M., Amory, S., Röck, A., ... Parsons, T. J. (2010). The mtDNA composition of Uzbekistan: A microcosm of Central Asian patterns. International Journal of Legal Medicine, 124(3), 195-204. https://doi.org/10.1007/s00414-009-0406-z