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Genetic Variation: Polymorphisms and Mutations

  1. Alan F Wright

Published Online: 23 SEP 2005

DOI: 10.1038/npg.els.0005005

eLS

eLS

How to Cite

Wright, A. F. 2005. Genetic Variation: Polymorphisms and Mutations. eLS. .

Author Information

  1. MRC Human Genetics Unit, Edinburgh, UK

Publication History

  1. Published Online: 23 SEP 2005

Abstract

The amount of sequence variation in different regions of the human genome varies by an order of magnitude. Mutations give rise to all variation, but their survival in the genome is influenced by many factors including effects on reproductive fitness, human population history, chromosomal location and recombination rates.

Keywords:

  • mutation;
  • polymorphism;
  • sequence variation;
  • single nucleotide polymorphism;
  • population history