The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns.
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.
Research Department, Armed Forces DNA Identification Laboratory (AFDIL), 1413 Research Blvd, Rockville, MD, 20850, USA. jodi.a.irwin@us.army.mil
Jodi A
JA
Irwin
Abror
A
Ikramov
Jessica
J
Saunier
Martin
M
Bodner
Sylvain
S
Amory
Alexander
A
Röck
Jennifer
J
O'Callaghan
Abdurakhmon
A
Nuritdinov
Sattar
S
Atakhodjaev
Rustam
R
Mukhamedov
Walther
W
Parson
Thomas J
TJ
Parsons
D016172:DNA Fingerprinting; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014610:Uzbekistan
D004272:DNA, Mitochondrial