Alan F Wright, MRC Human Genetics Unit, Edinburgh, UK
Published online: September 2005
DOI: 10.1038/npg.els.0005005
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 | |
| ePath Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim | |
| ePath Human Gene Mutation Database http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html | |
| ePath Apolipoprotein E (APOE); LocusID: 348. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=348 | |
| ePath Dystrophin (DMD); LocusID: 1756. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1756 | |
| ePath Coagulation factor VIII-associated (F8A); LocusID: 8263. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=8263 | |
| ePath Neurofibromin 1 (NF1); LocusID: 4763. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4763 | |
| ePath Polycystic kidney disease 1 (PKD1); LocusID: 5310. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5310 | |
| ePath Apolipoprotein E (APOE); MIM number: 107741. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?107741 | |
| ePath Dystrophin (DMD); MIM number: 300377. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300377 | |
| ePath Coagulation factor VIII-associated (F8A); MIM number: 305423. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?305423 | |
| ePath Neurofibromin 1 (NF1); MIM number: 162200. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?162200 | |
| ePath Polycystic kidney disease 1 (PKD1); MIM number: 601313. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601313 | |
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