Allelic disequilibrium and allele frequency distribution as a function of social and demographic history (original) (raw)

. 1997 Jan;60(1):197–204.

Abstract

Allelic disequilibrium between closely linked genes is a common observation in human populations and often gives rise to speculation concerning the role of selective forces. In a previous treatment, we have developed a population model of the expected distribution of rare variants (including private polymorphisms) in Amerindians and have argued that, because of the great expansion of Amerindian numbers with the advent of agriculture, most of these rare variants are of relatively recent origin. Many other populations have similar histories of striking recent expansions. In this treatment, we demonstrate that, in consequence of this fact, a high degree of linkage disequilibrium between two nonhomologous alleles <0.5 cM apart is the "normal" expectation, even in the absence of selection. This expectation is enhanced by the previous subdivision of human populations into relatively isolated tribes characterized by a high level of endogamy and inbreeding. We also demonstrate that the alleles associated with a recessive disease phenotype are expected to exist in a population in very variable frequencies: there is no need to postulate positive selection with respect to the more common disease-associated alleles for such entities as phenylketonuria or cystic fibrosis.

197

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arnason A., Larsen B., Marshall W. H., Edwards J. H., Macintosh P., Olaisen B., Teisberg P. Very close linkage between HLA-B and Bf inferred from allelic association. Nature. 1977 Aug 11;268(5620):527–528. doi: 10.1038/268527a0. [DOI] [PubMed] [Google Scholar]
  2. Ayala F. J., Escalante A., O'Huigin C., Klein J. Molecular genetics of speciation and human origins. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):6787–6794. doi: 10.1073/pnas.91.15.6787. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Hästbacka J., de la Chapelle A., Kaitila I., Sistonen P., Weaver A., Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992 Nov;2(3):204–211. doi: 10.1038/ng1192-204. [DOI] [PubMed] [Google Scholar]
  4. Jorde L. B. Linkage disequilibrium as a gene-mapping tool. Am J Hum Genet. 1995 Jan;56(1):11–14. [PMC free article] [PubMed] [Google Scholar]
  5. Kaplan N. L., Hill W. G., Weir B. S. Likelihood methods for locating disease genes in nonequilibrium populations. Am J Hum Genet. 1995 Jan;56(1):18–32. [PMC free article] [PubMed] [Google Scholar]
  6. Neel J. V., Satoh C., Smouse P., Asakawa J., Takahashi N., Goriki K., Fujita M., Kageoka T., Hazama R. Protein variants in Hiroshima and Nagasaki: tales of two cities. Am J Hum Genet. 1988 Dec;43(6):870–893. [PMC free article] [PubMed] [Google Scholar]
  7. Neel J. V. The population structure of an Amerindian tribe, the Yanomama. Annu Rev Genet. 1978;12:365–413. doi: 10.1146/annurev.ge.12.120178.002053. [DOI] [PubMed] [Google Scholar]
  8. Neel J. V., Thompson E. A. Founder effect and number of private polymorphisms observed in Amerindian tribes. Proc Natl Acad Sci U S A. 1978 Apr;75(4):1904–1908. doi: 10.1073/pnas.75.4.1904. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Neel J. V., Weiss K. M. The genetic structure of a tribal population, the Yanomama Indians. XII. Biodemographic studies. Am J Phys Anthropol. 1975 Jan;42(1):25–51. doi: 10.1002/ajpa.1330420105. [DOI] [PubMed] [Google Scholar]
  10. Piazza A., Rendine S., Minch E., Menozzi P., Mountain J., Cavalli-Sforza L. L. Genetics and the origin of European languages. Proc Natl Acad Sci U S A. 1995 Jun 20;92(13):5836–5840. doi: 10.1073/pnas.92.13.5836. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Robertson A., Narain P. The survival of recessive lethals in finite populations. Theor Popul Biol. 1971 Mar;2(1):24–50. doi: 10.1016/0040-5809(71)90003-7. [DOI] [PubMed] [Google Scholar]
  12. Slatkin M. Linkage disequilibrium in growing and stable populations. Genetics. 1994 May;137(1):331–336. doi: 10.1093/genetics/137.1.331. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Spielman R. S., Neel J. V., Li F. H. Inbreeding estimation from population data: models, procedures and implications. Genetics. 1977 Feb;85(2):355–371. doi: 10.1093/genetics/85.2.355. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Thompson E. A., Deeb S., Walker D., Motulsky A. G. The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet. 1988 Jan;42(1):113–124. [PMC free article] [PubMed] [Google Scholar]
  15. Thompson E. A., Neel J. V. Probability of founder effect in a tribal population. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1442–1445. doi: 10.1073/pnas.75.3.1442. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Thompson E. A., Neel J. V., Smouse P. E., Barrantes R. Microevolution of the Chibcha-speaking peoples of lower Central America: rare genes in an Amerindian complex. Am J Hum Genet. 1992 Sep;51(3):609–626. [PMC free article] [PubMed] [Google Scholar]
  17. Thompson E. A. The number of ancestral genes contributing to a sample of B8 alleles. Nature. 1978 Mar 16;272(5650):288–288. doi: 10.1038/272288a0. [DOI] [PubMed] [Google Scholar]