Polymorphisms: Origins and Maintenance

Abstract

Polymorphism is variation in specific locations in the deoxyribonucleic acid (DNA) sequence. Some authors use the term only for variant alleles with at least 1% frequency in a population. This shows the population dependence of the concept itself. Variation arises initially by some form of mutation in a single individual but, because DNA is transmitted from parent to offspring, over time the frequency and geographical distribution of a genetic variant is essentially a population concept that depends on history.

Keywords: variation; evolution; polymorphism; single nucleotide polymorphism; population genetics

Figure 1.

Schematic tree showing relationships between human geography and genetic distance.

close

References

Antonarakis S, Krawczak M and Cooper DN (2001) The nature and mechanisms of human gene mutation. In: Scriver C et al. (eds) The Metabolic and Molecular Basis of Inherited Disease. 8th edn, pp. 343–378. New York, NY: McGraw‐Hill.

Cavalli‐Sforza L (2001) Genes, Peoples, and Languages. Berkeley, CA: University of California Press.

Cavalli‐Sforza L, Menozzi P and Piazza A (1993) History and Geography of Human Genes. Princeton, NJ: Princeton University Press.

Chakravarti A (1999) Population genetics – making sense out of sequence. Nature Genetics 211(supplement 1): 56–60.

Crow J (2001) The origins, patterns and implications of human spontaneous mutation Nature Reviews Genetics 1: 40–47.

Gillespie J (1998) Population Genetics: A Concise Guide. Baltimore, MD: Johns Hopkins University Press.

Hartl D and Clark A (1997) Principles of Population Genetics. Sunderland, MA: Sinauer Associates.

Jorde L (2000) Linkage disequilibrium and the search for complex disease genes. Genome Research 10: 1435–1444.

Sachidanandam R, Weissman D, Schmidt SC et al. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928–933.

Terwilliger J and Goring H (2000) Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Human Biology 72: 63–132.

Weiss K and Terwilliger J (2000) How many diseases does it take to map a gene with SNPs? Nature Genetics 26: 151–157.

Further Reading

Harpending H, Batzer M, Gurven M et al. (1998) Genetic traces of ancient demography. Proceedings of the National Academy of Sciences of the USA 95: 1961–1967.

Jorde L, Bamshad M and Rogers A (1998) Using mitochondrial and nuclear DNA markers to reconstruct human evolution. BioEssays 20: 126–136.

Relethford J (2000) The Human Species: An Introduction to Biological Anthropology. Mountain View, CA: Mayfield.

Sharp AJ, Cheng Z and Eichler EE (2006) Structural variation of the human genome. Annual Review of Genomics and Human Genetics 7: 407–442.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Weiss, Kenneth M(Apr 2008) Polymorphisms: Origins and Maintenance. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005449.pub2]