title: Genetic features of Khoton Mongolians revealed by SNP analysis of the X chromosome.
abstract: The Khoton Mongolian population is a small and relatively isolated ethnic group residing predominantly in the northwestern part of Mongolia. A recent genetic study of the Y chromosome revealed that the major Mongolian ethnic groups have a relatively close genetic affinity to populations in the northern part of East Asia, while the Khoton population reflected an apparent genetic differentiation from the other Mongolian populations. To further investigate the genetic features of the Khoton and the other Mongolian populations, we analyzed the single nucleotide polymorphisms (SNPs) in the Xq13.3 region, which is thought to have an extremely low level of recombination in the human X chromosome. We found that the frequency distribution of Xq13.3 haplotypes in the Khoton population was substantially different from those in three other Mongolian populations (Khalkh, Uriankhai, and Zakhchin). The same relationship was also revealed by the results from the population tree and principal-component (PC) analysis based on the allele frequencies. These results are largely consistent with the hypothesis that the Khoton population descended from a nomadic tribe of Turkish origin, which has been supported by previous anthropological, historical, and Y-chromosome studies. However, the population structure analysis produced an additional finding, namely, that the Khoton population is likely to be an admixed population.
authors.affiliation: Molecular Life Science, School of Medicine, Tokai University, Bohseidai, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Katoh
authors.forename: Shuhei
authors.initials: S
authors.lastname: Mano
authors.forename: Batmunkh
authors.initials: B
authors.lastname: Munkhbat
authors.forename: Kenichi
authors.initials: K
authors.lastname: Tounai
authors.forename: Ganjuur
authors.initials: G
authors.lastname: Oyungerel
authors.forename: Gue-Tae
authors.initials: GT
authors.lastname: Chae
authors.forename: Hoon
authors.initials: H
authors.lastname: Han
authors.forename: Guan-Jun
authors.initials: GJ
authors.lastname: Jia
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
authors.forename: Namid
authors.initials: N
authors.lastname: Munkhtuvshin
authors.forename: Gen
authors.initials: G
authors.lastname: Tamiya
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Inoko
mesh_terms: D000483:Alleles; D044466:Asian People; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D005787:Gene Frequency; D005828:Genetics, Population / Q000379:methods; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008986:Mongolia; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic / Q000235:genetics