title: Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude.
abstract: Mitochondrial DNAs (mtDNAs) of 54 Tibetans residing at altitudes ranging from 3,000-4,500 m were amplified by polymerase chain reaction (PCR), examined by high-resolution restriction endonuclease analysis, and compared with those previously described in 10 other Asian and Siberian populations. This comparison revealed that more than 50% of Asian mtDNAs belong to a unique mtDNA lineage which is found only among Mongoloids, suggesting that this lineage most likely originated in Asia at an early stage of the human colonization of that continent. Within the Tibetan mtDNAs, sets of additional linked polymorphic sites defined seven minor lineages of related mtDNA haplotypes (haplogroups). The frequency and distribution of these haplogroups in modern Asian populations are supportive of previous genetic evidence that Tibetans, although located in southern Asia, share common ancestral origins with northern Mongoloid populations. This analysis of Tibetan mtDNAs also suggests that mtDNA mutations are unlikely to play a major role in the adaptation of Tibetans to high altitudes.
authors.affiliation: Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322.
authors.forename: A
authors.initials: A
authors.lastname: Torroni
authors.forename: J A
authors.initials: JA
authors.lastname: Miller
authors.forename: L G
authors.initials: LG
authors.lastname: Moore
authors.forename: S
authors.initials: S
authors.lastname: Zamudio
authors.forename: J
authors.initials: J
authors.lastname: Zhuang
authors.forename: T
authors.initials: T
authors.lastname: Droma
authors.forename: D C
authors.initials: DC
authors.lastname: Wallace
mesh_terms: D000222:Adaptation, Physiological / Q000235:genetics*; D000531:Altitude; D044466:Asian People / Q000145:classification / Q000235:genetics*; D002681:China; D004272:DNA, Mitochondrial / Q000032:analysis*; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial