Skip to main content

Genetic Polymorphism

  • Living reference work entry
  • First Online:
Encyclopedia of Personality and Individual Differences
  • 50 Accesses

Synonyms

SNP; Single nucleotide polymorphism

Definition

The human DNA is exposed to a number of changes, these changes are frequently carried out in one or few nucleotides called mutations, which can be caused by errors in the mechanisms of DNA replication and repair as well as by environmental factors; and these mutations can have deleterious effects and cause disease. These mutations can result in polymorphisms that provide allelic variation between individuals and diversity of species; to be considered as such its frequency should be higher in one of its alleles at 1%.

Introduction

Since the discovery of the polymerase chain reaction (PCR) began in the 1990s, the Human Genome Project which aimed to completely sequence the human DNA published in 2001 a first draft (Lander et al. 2001; Venter et al. 2001) to 2004 published new results delivering 99% sequence of the human genome. These developments show that the human genome consists of 2.85 billion nucleotides, packaged in two sets...

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

Access this chapter

Institutional subscriptions

References

  • A global reference for human genetic variation. (2015). Nature, 526, 68–74. doi:10.1038/nature15393.

    Article  Google Scholar 

  • Brookes, A. J. (1999). The essence of SNPs. Gene, 234(2), 177–186. doi:10.1016/S0378-1119(99)00219-X.

    Article  PubMed  Google Scholar 

  • Hattori, M. (2005). Finishing the euchromatic sequence of the human genome. Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 50(2), 162–168. doi:10.1038/nature03001.

    PubMed  Google Scholar 

  • Hirschhorn, J. N., & Daly, M. J. (2005). Genome-wide association studies for common diseases and complex traits. Nature Reviews Genetics, 6(2), 95–108. doi:10.1038/nrg1521.

    Article  PubMed  Google Scholar 

  • International, T., & Consortium, H. (2003). The International HapMap Project. Nature, 426(6968), 789–796. doi:10.1038/nature02168.

    Article  Google Scholar 

  • Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., & International Human Genome Sequencing, C. (2001). Initial sequencing and analysis of the human genome. Nature, 409(6822), 860–921. doi:10.1038/35057062.

    Article  PubMed  Google Scholar 

  • Manolio, T. a., & Collins, F. S. (2009). The HapMap and genome-wide association studies in diagnosis and therapy. Annual Review of Medicine, 60, 443–456. doi:10.1146/annurev.med.60.061907.093117.

    Article  PubMed  PubMed Central  Google Scholar 

  • The International HapMap Consortium. (2005). A haplotype map of the human genome. Nature, 437(7063), 1299–1320. doi:10.1038/nature04226.

    Article  PubMed Central  Google Scholar 

  • Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., … Zhu, X. (2001). The sequence of the human genome. Science (Washington, DC, United States), 291(5507), 1304–1351. doi: 10.1126/science.1058040.

    Google Scholar 

  • Weber, J. L., & Wong, C. (1993). Mutation of human short tandem repeats. Human Molecular Genetics, 2(8), 1123–1128.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Barbara Angel .

Editor information

Editors and Affiliations

Section Editor information

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer International Publishing AG

About this entry

Cite this entry

Angel, B. (2017). Genetic Polymorphism. In: Zeigler-Hill, V., Shackelford, T. (eds) Encyclopedia of Personality and Individual Differences. Springer, Cham. https://doi.org/10.1007/978-3-319-28099-8_754-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-28099-8_754-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28099-8

  • Online ISBN: 978-3-319-28099-8

  • eBook Packages: Springer Reference Behavioral Science and PsychologyReference Module Humanities and Social SciencesReference Module Business, Economics and Social Sciences

Publish with us

Policies and ethics