February 08, 2010

mtDNA of Uzbekistan

International Journal of Legal Medicine doi:10.1007/s00414-009-0406-z

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

Jodi A. Irwin et al.


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.



eurologist said...

Seems like a lot of data, little analysis.

If most of the found haplogroups are derived and recent, this indeed would only shed light on quite recent migrations over the past 3,000 to 5,000 years or so. However, that is hard to tell without deeper analysis.

Perhaps one should look at, e.g., northern Indian populations, instead, in comparison to Europe and the far north East, if interested in early migration patterns. Seems like during LGM, this region may have been completely depopulated, so we are really only looking at quite recent influx from all directions.

aargiedude said...

Could someone upload the supplementary file?

Scott said...


aargiedude said...

Thanks, Scott. The pdf is in a terrible format which makes it impossible to copy/paste. It's not a security issue, the file has almost all the security options set to allowed, including allowing people to copy from the file. If anyone can figure out how to succesfully extract the data from the pdf, I'd be very thankful. The data, of course, is perfectly viewable.

eurologist said...

I believe there is a large Excel sheet with all the data.

Ponto said...

It is likely that Central Asia was a formative region for people of Caucasoid human subtype probably equal to the Middle East. The difference with the Middle East is Central Asia contributed to the formation of East Asian populations where as the Middle East just acted as a funnel moving people on, and starting the agricultural revolution and some movements of people to Europe and Asia.

aargiedude said...

I believe there is a large Excel sheet with all the data.

Do you have a link to this xls file?