February 28, 2010

mtDNA variation in Uzbekistan

Int J Legal Med 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.



Onur Dincer said...

Looking at the graph, racial makeup of the indigenous Central Asian ethnicities (all except Afghans and Russians) of Uzbekistan don't look significantly different from each other (though the differences are probably more in Y haplogroup distributions), taking into account the east-west Mongoloid-Caucasoid cline. Afghans (I guess they are mainly Dari (Afghan Persian) speaking) are separated from the main group through their clearly more pronounced Caucasoid component; while Russians are total outliers, reflecting their recent arrival to the region from western Russia.

Unknown said...

When this came up before did anyone manage to find out what they define as South Asian? I dont have any problem with the South Asian component in all the Central Asian countries but if Im reading the colours right even the ethnic Russians seem to have a measurable South Asian component, which seems odd.

Scott said...

(west Eurasian: R0, N1, JT, UK, Wand X; South Asian:
M*, U2a-c, U9, R*, R1-R2, R5-R6, N1d; East Eurasian:
M-CDGZ, A, B, F, N9a; African: L)

Unknown said...

Cheers. So R1s and Kostenki get counted as South Asians. That explains it.

So youd get the same proportions with ethnic Russians in Russia presumably.

aargiedude said...

Someone said the data was available as an xls file. Can you post the link?

Anonymous said...

Interesting read. Personally, folks from Uzbekistan always struck me as looking like Iranians who mixed it up with Mongols...But that's just my very crude two-cents worth.