Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations

Am J Hum Genet. 1998 Dec;63(6):1824-38. doi: 10.1086/302133.


Central Asia is a vast region at the crossroads of different habitats, cultures, and trade routes. Little is known about the genetics and the history of the population of this region. We present the analysis of mtDNA control-region sequences in samples of the Kazakh, the Uighurs, the lowland Kirghiz, and the highland Kirghiz, which we have used to address both the population history of the region and the possible selective pressures that high altitude has on mtDNA genes. Central Asian mtDNA sequences present features intermediate between European and eastern Asian sequences, in several parameters-such as the frequencies of certain nucleotides, the levels of nucleotide diversity, mean pairwise differences, and genetic distances. Several hypotheses could explain the intermediate position of central Asia between Europe and eastern Asia, but the most plausible would involve extensive levels of admixture between Europeans and eastern Asians in central Asia, possibly enhanced during the Silk Road trade and clearly after the eastern and western Eurasian human groups had diverged. Lowland and highland Kirghiz mtDNA sequences are very similar, and the analysis of molecular variance has revealed that the fraction of mitochondrial genetic variance due to altitude is not significantly different from zero. Thus, it seems unlikely that altitude has exerted a major selective pressure on mitochondrial genes in central Asian populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Altitude
  • Asia
  • Asia, Central
  • Asian Continental Ancestry Group / genetics*
  • Atmospheric Pressure
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Databases, Factual
  • Europe
  • Gene Frequency
  • Gene Pool
  • Genetic Linkage
  • Genetic Variation*
  • Humans
  • Locus Control Region / genetics
  • Models, Genetic
  • Molecular Sequence Data
  • Phylogeny*
  • Polymorphism, Genetic
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid


  • DNA, Mitochondrial