Genetic Variation: Polymorphisms and Mutations


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

Further Reading

Botstein D and Risch N (2003) Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nature Genetics 33(supplement): 228–237.

Reich DE, Schaffner SF, Daly MJ, et al. (2002) Human genome sequence variation and the influence of gene history, mutation and recombination. Nature Genetics 32: 135–142.

Risch NJ (2000) Searching for genetic determinants in the new millennium. Nature 405: 847–856.

The International SNP Map Working Group (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928–933.

Wright A, Charlesworth B, Rudan I, Carothers A and Campbell H (2003) A polygenic basis for late‐onset disease. Trends in Genetics 19: 97–106.

Web Links

Online Mendelian Inheritance in Man

Human Gene Mutation Database

Apolipoprotein E (APOE); LocusID: 348. LocusLink:

Dystrophin (DMD); LocusID: 1756. LocusLink:

Coagulation factor VIII‐associated (F8A); LocusID: 8263. LocusLink:

Neurofibromin 1 (NF1); LocusID: 4763. LocusLink:

Polycystic kidney disease 1 (PKD1); LocusID: 5310. LocusLink:

Apolipoprotein E (APOE); MIM number: 107741. OMIM:‐post/Omim/dispmim?107741

Dystrophin (DMD); MIM number: 300377. OMIM:‐post/Omim/dispmim?300377

Coagulation factor VIII‐associated (F8A); MIM number: 305423. OMIM:‐post/Omim/dispmim?305423

Neurofibromin 1 (NF1); MIM number: 162200. OMIM:‐post/Omim/dispmim?162200

Polycystic kidney disease 1 (PKD1); MIM number: 601313. OMIM:‐post/Omim/dispmim?601313

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

* Required Field

How to Cite close
Wright, Alan F(Sep 2005) Genetic Variation: Polymorphisms and Mutations. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005005]