Mongolians in the Genetic Landscape of Central Asia: Exploring the Genetic Relations among Mongolians and Other World Populations

Hum Biol. 2015 Apr;87(2):73-91. doi: 10.13110/humanbiology.87.2.0005.


Genetic data on North and Central Asian populations are underrepresented in the literature, especially for autosomal markers. In the present study we used 812 single nucleotide polymorphisms (SNPs) distributed across all the human autosomes and extensively studied at Yale to examine the affinities of two recently collected samples of populations: rural and cosmopolitan Mongolians from Ulaanbaatar and nomadic, Turkic-speaking Tsaatan from Mongolia near the Siberian border. We compare these two populations with each other and with a global set of populations and discuss their relationships to New World populations. Specifically, we analyze data on 521 autosomal loci (single SNPs and multi-SNP haplotypes) studied in 57 populations representing all the major geographical regions of the world. We conclude that these North and Central Asian populations are genetically distinct from all other populations in our study and may be close to the ancestral lineage leading to the New World populations.


Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Archaeology / methods*
  • Asia, Central / ethnology
  • Asian People / genetics*
  • DNA / chemistry
  • DNA / genetics
  • Evolution, Molecular
  • Gene Frequency
  • Genetics, Population
  • Haplotypes
  • Humans
  • Mongolia
  • Polymorphism, Single Nucleotide
  • Saliva / chemistry


  • DNA