Skip to main content

Analysis of Genetic Structure of Populations: Meaning, Methods, and Implications

  • Chapter
Human Population Genetics

Abstract

Genetic structure of a population is characterized by the number of subpopulations within it, the frequencies of different genetic variants (alleles) in each subpopulation, and the degree of genetic isolation of the subpopulations. Understanding of genetic structure of populations had been the focus of attention of population geneticists from the inception of this discipline. Like any other topics of population genetics, the study of population structure also did not escape Haldaneā€™s attention (see e.g.Haldane and Moshinsky, 1939;Haldane, 1954), but Sewall Wright (1989-1988), another poineering population geneticist, is credited for the first mathematical conceptualization of the study of genetic structure of populations.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Bowcock, A.M., Kidd, J.R., Mountain, J.L., Herbert, J.M., Carotenuto, L., Kidd, K.K., and Cavalli-Sforza, L.L., 1991, Drift, admixture, and selection in human evolution: A study with DNA polymorphisms.Proc. Natl. Acad. Sci. U.S.A.88:839.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Chakraborty, R., 1974, A note on Neiā€™s measure of gene diversity in a substructured population.Humangenetik21:85.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Chakraborty, R., 1980, Gene-diversity analysis in nested subdivided population.Genetics96:721.

    Google ScholarĀ 

  • Chakraborty, R., 1985, Genetic distance and gene diversity: some statistical considerations, in ā€œMultivariate Analysis - VI,ā€ P.R. Krishnaiah, ed., Elsevier, Amsterdam, p. 77.

    Google ScholarĀ 

  • Chakraborty, R.,, 1986, Gene admixture in human populations: models and predictions.Yrbk. Phys. Anthrop.29:1.

    ArticleĀ  Google ScholarĀ 

  • Chakraborty, R., 1988, Analysis of genetic structure of a population and its associated statistical problems.Sankhya Ser.B. 50:327.

    Google ScholarĀ 

  • Chakraborty, R., 1990, Quantitative traits in relation to population structure: why and how are they used and what do they imply? Hum.Biol.62:147.

    CASĀ  Google ScholarĀ 

  • Chakraborty, R., and Danker-Hopfe, H., 1991, Analysis of population structure: a comparative study of different estimators of Wrightā€™s fixation indices, in ā€œHandbook of Statistics 8: Statistical Methods in Biological and Medical Sciences,ā€ C.R. Rao, and R. Chakraborty, eds., North-Holland, Amsterdam, p. 203.

    Google ScholarĀ 

  • Chakraborty, R., Deka, R., Jin, L., and Ferrell, R.E., 1992b, Allele sharing at six VNTR loci and genetic distances among three ethnically defined human population. Amer.J. Hum. Biol.4:387.

    ArticleĀ  Google ScholarĀ 

  • Chakraborty, R., Haag, M., Ryman, N., and Stahl, G., 1982, Hierarchical gene diversity analysis and its application to brown trout population data.Hereditas97:17.

    ArticleĀ  Google ScholarĀ 

  • Chakraborty, R., and Jin, L., 1992, Heterozygote deficiency, population substructure and their implications in DNA fingerprinting. Humangenetics88:267.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Chakraborty, R., and Kidd, K.K., 1991, The utility of DNA typing in forensic work.Science254:1735.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Chakraborty, R., and Nei, M., 1974, Dynamics of gene differentiation between incompletely isolated populations of unequal sizes.Theor. Pop. Biol.5:460.

    ArticleĀ  CASĀ  Google ScholarĀ 

  • Chakraborty, R., and Rao, C.R., 1991, Measurement of genetic variation for evolutionary studies, in ā€œHandbook of Statistics 8: Statistical Methods in Biological and Medical Sciences,ā€ C. R. Rao, and R. Chakraborty, eds., North-Holland, Amsterdam, p. 271.

    Google ScholarĀ 

  • Chakraborty, R., Srinivasan, M.R., Jin, L., and de Andrade, M., 1992a, Effects of population subdivision and allele frequency differences on interpretation of DNA typing data for human identification, in ā€œProceedings of 1992 Sympo-sium on Human Identificationā€, Promega Corporation, Madison. p. 205.

    Google ScholarĀ 

  • Cockerham, C.C., 1969, Variance of gene frequencies.Evolution 23:72.

    Google ScholarĀ 

  • Cockerham, C.C., 1973, Analysis of gene frequencies.Genetics74:679.

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Curie-Cohen, M., 1982, Estimates of inbreeding in a natural population: a compar-ison of sampling properties.Genetics100:339.

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Deka, R., Chakraborty, R., and Ferrell, R.E., 1991, A population genetic study of six VNTR loci in three ethnically defined populations.Genomics11:83.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Edwards, A., Hammond, H.A., Jin, L., Caskey, C.T., and Chakraborty, R., 1992, Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups.Genomics12:241.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Ewens, W.J., 1990, The minimum viable population size as a genetic and demographic concept, in ā€œConvergent Issues in Genetics and Demography,ā€ J. Adams, D.A. Lam, A.L. Hermalin, and P.E. Smouse, eds., Oxford University Press, New York, p. 307.

    Google ScholarĀ 

  • Haldane, J.B.S., 1954, An exact test for randomness of mating.J. Genet.52:631.

    Google ScholarĀ 

  • Haldane, J.B.S., and Moshinsky, P., 1939, Inbreeding in Mendelian population with special reference to human cousin marriage. Ann.Eugen.9:321.

    Google ScholarĀ 

  • Kirby, G.C., 1975, Heterozygote frequencies in small populationsTheor. Pop. Biol.8:31.

    ArticleĀ  CASĀ  Google ScholarĀ 

  • Lewontin, R.C., 1972, The apportionment of human diversity.Evol. Biol.6:381.

    ArticleĀ  Google ScholarĀ 

  • Lewontin, R.C., and Hartl, D.L., 1991, Population genetics in forensic DNA typing.Science254:1745.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Li, C.C., 1969, Population subdivision with respect to multiple alleles. Ann. Hum.Genet.33:23.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Li, W.-H., 1976, Effect of migration on genetic distance.Amer. Natur.110:841.

    ArticleĀ  Google ScholarĀ 

  • Long, J.C., 1986, The allelic correlation structure of Gainj-and Kalam-speaking people, I. The estimation and interpretation of Wrightā€™s F- statistics.Genetics112:629.

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Maruyama, T., 1973, A diffusion model for geographically structured populations, in ā€œGenetic Structure of Populations,ā€ N.E. Morton, ed., University of Hawaii Press, Honolulu, p. 40.

    Google ScholarĀ 

  • Morton, N.E., 1973, ā€œGenetic Structure of Populations,ā€ University of Hawaii Press, Honolulu.

    Google ScholarĀ 

  • Morton, N.E., 1982, ā€œOutline of Genetic Epidemiology,ā€ Karger, Basel.

    Google ScholarĀ 

  • Morton, N.E., 1992, Genetic structure of forensic populations.Proc. Natl. Acad. Sci. USA.89:2256.

    Google ScholarĀ 

  • Mourant, A.E., Kopec, A.C., and Domaniewska-Sobcazk, K., 1976, ā€œThe Distribution of the Human Blood Groups and Other Polymorphisms,ā€ Oxford University Press, London.

    Google ScholarĀ 

  • National Health Survey, 1980, ā€œSelected Genetic Markers of Blood and Secretions,ā€ U.S. Dept. of Health, Education, and Welfare, Publ. No. (PHS) 80ā€“1664, Washington DC.

    Google ScholarĀ 

  • National Research Council, 1992, ā€œDNA Technology in Forensic Science,ā€ National Academy Press, Washington DC.

    Google ScholarĀ 

  • Neel, J.V., 1973, ā€œPrivateā€ genetic variants and the frequency of mutation among South American Indians.Proc. Natl. Acad. Sci. USA.70:3311.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Nei, M., 1965, Variation and covariation of gene frequencies in subdivided populations.Evolution19:256.

    ArticleĀ  Google ScholarĀ 

  • Nei, M., 1973, Analysis of gene diversity in subdivided populationProc. Natl. Acad. Sci. USA.70:3321.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Nei, M., 1975, ā€œMolecular Population Genetics and Evolution,ā€ North- Holland, Amsterdam-New York.

    Google ScholarĀ 

  • Nei, M., 1977, F-statistics and analysis of gene diversity in subdivided populations. Ann.Hum. Genet.41:225.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Nei, M., 1987, ā€œMolecular Evolutionary Genetics,ā€ Columbia University Press, New York.

    Google ScholarĀ 

  • Nei, M., and Chesser, R.K., 1983, Estimation of fixation indices and gene diversities. Ann.Hum. Genet.47:253.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Nei, M., and Feldman, M., 1972, Identity of genes by descent within and between populations under mutation and migration pressures.Theor. Pop. Biol.3:460.

    ArticleĀ  CASĀ  Google ScholarĀ 

  • Nei, M, and Roychoudhury, A.K., 1972, Gene differences between Caucasian, Negro, and Japanese populations.Science177:434.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Nei, M, and Roychoudhury, A.K., 1982, Genetic relationship and evolution of human races.Evol. Biol.14:1.

    Google ScholarĀ 

  • Rao, C.R., 1982a, Gini-Simpson index of diversity: a characterization, generalization and applications.Utilitas Mathematica21:273.

    Google ScholarĀ 

  • Rao, C.R., 1982b, Diversity and dissimilarity coefficients: a unified approach.Theor. Pop. Biol.21:24.

    ArticleĀ  Google ScholarĀ 

  • Rao, C.R., 1984, Use of diversity and distance measures in the analysis of qualitative data, in ā€œMultivariate Statistical Methods in Physical Anthropology,ā€ N. Van Vark, and W.H. Howell, eds., Reidal, Dordrecht, p. 49.

    ChapterĀ  Google ScholarĀ 

  • Reed, T.E., 1969, Caucasian genes in American Negroes.Science165:762.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  • Ryman, N., and Utter, F., 1987, ā€œPopulation Genetics and Fishery Management,ā€ University of Washington Press, Seattle.

    Google ScholarĀ 

  • Slatkin, M., 1985, Rare alleles as indicators of gene flow.Evolution39:53.

    ArticleĀ  Google ScholarĀ 

  • Smouse, P.E., and Long, J.C., 1988, A comparative F-statistics analysis of the genetic structure of human populations from lowland South America and Highland New Guinea in ā€œQuantitative Genetics,ā€ B. Weir, E.J. Eisen, M.M. Goodman, G. Namkoong, eds., Sinauer Associates, Sunderland, p. 32.

    Google ScholarĀ 

  • Weir, B.S., and Cockerham, C.C., 1984, Estimating F-statistics for the analysis of population structureEvolution38:1358.

    ArticleĀ  Google ScholarĀ 

  • Wilson, E.O., 1975, ā€œ Sociobiology,ā€ Harvard University Press, Cambridge.

    Google ScholarĀ 

  • Wright, S., 1921, Systems of Mating.Genetics6:111.

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Wright, S., 1931, Evolution in Mendelian populations.Genetics16:97.

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Wright, S., 1943, Isolation by distanceGenetics28:114.

    PubMedĀ  CASĀ  Google ScholarĀ 

  • Wright, S., 1951, The genetic structure of populations, Ann.Eugen.15:323.

    Google ScholarĀ 

  • Wright, S., 1965, The interpretation of population structure by F-statistics with special regard systems of mating.Evolution19: 395.

    ArticleĀ  Google ScholarĀ 

  • Yamazaki, T., and Maruyama, T., 1972, Evidence for the neutral hypothesis of protein polymorphism.Science178:56.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

Ā© 1993 Springer Science+Business Media New York

About this chapter

Cite this chapter

Chakraborty, R. (1993). Analysis of Genetic Structure of Populations: Meaning, Methods, and Implications. In: Majumder, P.P. (eds) Human Population Genetics. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2970-5_14

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-2970-5_14

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-6292-0

  • Online ISBN: 978-1-4615-2970-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics