Abstract
Genetic affinity of human populations based on allele frequency data was studied from two viewpoints. (1) The effect of the number of polymorphic loci on the reconstruction of a phylogenetic tree of human populations was empirically investigated. Genetic affinity trees were constructed based on data for 1–12 polymorphic loci, by using the neighbor-joining method. Geographical clustering of populations gradually appeared when the number of loci was increased. A new classification and terminology of higher order human population clusters is proposed based on these and other studies. (2) A new method of estimating the absolute divergence time of two populations is proposed, which is based on a diffusion equation that describes random genetic drift.
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References
Abramowitz M. & Stegun I.A., 1964.Handbook of Mathematical Functions with Formulas, Graphs, and Mathematical Tables. National Bureau of Standards, Washington, D.C.
Ballard C, 1993.Stimulating minds to fantasy? A critical etymology for Sahul. In (Smith M.A. Spriggs M., & Frankhansen B. eds), Occasional Papers in Prehistory, No. 24, Sahul in Review, pp. 17–23. Department of Prehistory, Australian National University, Sydney.
Bellwood P.S., 1977.Man’s Conquest of the Pacific. Collins, London and Auckland.
Bendyshe T., ed., 1985.Anthropological Treatises of Johann Friedrich Blumenbach. Longman, London.
Bowcock A.M., Ruiz-Linares A., Tomfohrde, J., Minch E., Kidd J.R., & Cavalli-Sforza L.L., 1994.High resolution of human evolutionary trees with polymorphic microsatellites. Nature, 368: 455–457.
Cann R.L., Stoneking M., & Wilson A.C., 1987.Mitochondrial DNA and human evolution. Nature, 325: 31–36.
Cavalli-Sforza L.L. & Edwards A.W.F., 1967.Phylogenetic analysis: models and estimation procedures.American Journal of Human Genetics, 19: 233–257.
Cavalli-Sforza L.L., Piazza A., Menozzi P., & Mountain J., 1988.Reconstruction of human evolution: Bringing together genetic, archaeological, and linguistic data. Proceedings of National Academy of Sciences USA, 85: 6002–6006.
Darwin C., 1859.The Origin of Species by Means of Natural Selection. John Murray, London.
Harihara S., Hirai M., Suutou Y., Shimizu K., & Omoto K., 1992.Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations. Human Biology, 64: 161–166.
Hertzberg M., Mickleson K.N.P., Serjeantson S.W., Prior J.F., & Trent R.J., 1989.An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians. American Journal of Human Genetics, 44: 504–510.
Horai S., Kondo R., Nakagawa-Hattori Y., Hayashi S., Sonoda S., & Tajima K., 1993.Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Molecular Biology and Evolution, 10: 23–47.
Imanishi T., Wakisaka A., & Gojobori T., 1992.Genetic relationships among various human populations indicated by MHC polymorphisms. In (Tsuji, K., Aizawa, M., & Sasazuki, T. eds.). HLA1991 Vol. 1, pp. 627–632. Oxford Univ. Press, Oxford.
Kimura M., 1955.Solution of a process of random genetic drift with a continuous model. Proceedings of National Academy of Sciences USA, 41: 144–150.
Nei, M., 1972.Genetic distance between populations. American Naturalist, 106: 283–292.
Nei, M., 1987.Molecular Evolutionary Genetics. Columbia University Press, New York.
Nei M. & Roychoudhury A. K., 1974.Genetic variation within and between the three major races of man, Caucasoids, Negroids, and Mongoloids. American Journal of Human Genetics, 26: 421–443.
Nei M. & Roychoudhury A.K., 1982.Genetic relationship and evolution of human races. Evolutionary Biology, 14: 1–59.
Nei M. & Roychoudhury A.K., 1993.Evolutionary relationships of human populations on a global scale. Molecular Biology and Evolution, 10: 927–943.
Nei M., Tajima F., & Tateno Y., 1983.Accuracy of estimated phylogenetic trees from molecular data. II. Gene frequency data. Journal of Molecular Evolution, 19: 153–170.
Nei M. & Takezaki N., 1994.Estimation of genetic distances and phylogenetic trees from data analysis. Proceedings of the 5th World Congress on Genetics Applied to Liverstok Production, 21: 405–412.
Passarino G., Semino O., Modiano G., & Santachiara-Benerecetti A.S., 1993.COII/tRNALys Intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (Southern Nepal) have Oriental affinities. American Journal of Human Genetics, 53: 609–618.
Roychoudhury A.K. & Nei M., 1988.Human Polymorphic Genes: A World Distribution. Oxford University Press, Oxford.
Saitou N., 1991.Statistical methods for phylogenetic tree reconstruction. In (Rao C.R. & Chakraborty R. eds.), Handbook of Statistics, Volume 8: Statistical Methods for Biological and Medical Sciences, pp. 317–346. Elsevier Science Publishers B.V., Amsterdam.
Saitou N. & Nei M., 1987.The neighbor-joining method: a new method for constructing phylogenetic trees. Molecular Biology and Evolution, 4: 406–425.
Saitou N., Omoto K., Du C., & Du R., 1994.Population genetic study in Hainan Island, China. II. Genetic affinity analyses. Anthropological Science, 102: 129–147.
Saitou N., Tokunaga K., & Omoto K., 1992.Genetic affinities of human populations. In (Roberts, D.F., Fujiki, N., & Torizuka, K. eds.). Society for Study of Human Biology Symposium 33: Isolation, Migration, and Health, pp. 118–129. Cambridge University Press, Cambridge.
Sambuughin N., Petrishchev V.N., & Rychkov Yu. G., 1991.DNA polymorphism in Mongolian population: analysis of restriction endonuclease polymorphism of mitochondrial DNA. Genetika, 27: 2143–2151 (in Russian).
Schurr T.G., Ballinger S.W., Gan Y.-Y., Jodge J.A., Merriwether D.A., Lawrence D.N., Knowler W.C., Weiss K.M., & Wallace D.C., 1990.Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. American Journal of Human Genetics, 46: 613–623.
Shields G.F., Hecker K., Voevoda M.I., & Reed J.K., 1992.Absence of the Asian-specific region V mitochondrial marker in native Beringians. American Journal of Human Genetics, 50: 758–765.
Shields G.F., Schmiechen A.M., Frazier B.L., Reed A., Voevoda M.I., Reed J.K., & Ward R.H., 1993.mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern American populations. American Journal of Human Genetics, 53: 549–562.
Torroni A., Sukernik R.I., Schurr T.G., Starikovskaya Y.B., Cabell M.F., Crawford M.H., Comuzzie A.G., & Wallace D.C., 1993a.mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with native Americans. American Journal of Human Genetics, 53: 591–608.
Torroni A., Schurr T.G., Cabell M.F., Brown M.D., Neel J.V., Larsen M., Smith D.G., Vullo C.M., & Wallace D.C., 1993b.Asian affinities and continental radiation of the four founding native American mtDNAs. American Journal of Human Genetics, 53: 563–590.
White J.P. & O’Connell J.F., 1979.Australian prehistory: new aspects of antiquity. Science, 203: 21–28.
Wrischnik L.A., Higuchi R.G., Stoneking M., Erlich H.A., Arnheim N., & Wilson A.C., 1987.Length mutations in human mitochondrial DNA; direct sequencing of enzymatically amplified DNA. Nucleic Acids Research, 15: 529–542.
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Saitou, N. A genetic affinity analysis of human populations. Hum. Evol. 10, 17–33 (1995). https://doi.org/10.1007/BF02437511
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DOI: https://doi.org/10.1007/BF02437511