Allelic and Locus Heterogeneity

Abstract

‘Allelic heterogeneity’ implies that different alleles in the same gene can cause a similar variant phenotype. Genetic or ‘locus (nonallelic) heterogeneity’ implies that mutation in different genes may explain one variant phenotype. When simultaneous expression of mutations in different genes is necessary the phenotype is said to reflect digenic or oligogenic inheritance

Keywords: allele; databases; evolution; nomenclature; polymorphism

References

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Further Reading

Bearn AG (1993) Archibald Garrod and the Individuality of Man. Oxford, UK: Oxford University Press/Clarendon Press.

Hartl DL and Jones EW (2001) Genetics: Analysis of Genes and Genomes, 5th edn. London, UK: Jones and Bartlett Publishers International.

Kimura M (1983) The Neutral Theory of Molecular Evolution. Cambridge, UK: Cambridge University Press.

King RC and Stansfield WD (1997) A Dictionary of Genetics, 5th edn. Oxford, UK: Oxford University Press.

Strachan T and Read AP (2000) Human Molecular Genetics 2nd edn. Chichester, UK: Bios/Wiley‐Liss.

Web Links

OMIM (Online Mendelian Inheritance in Man) http://www.ncbi.nlm.nih.gov/Omim/

Phenylalanine hydroxylase locus knowledgebase http://www.pahdb.mcgill.ca/

Tetrahydrobiopterin http://www.bh4.org

AR(androgen receptor(dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)); LocusID: 367. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=367

FGFR3(fibroblast growth factor receptor 3(achondroplasia, thanatophoric dwarfism)); LocusID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261

HGD(homogentisate 1,2‐dioxygenase(homogentisate oxidase)); LocusID: 3081 LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3081

PAH(phenylalanine hydroxylase); LocusID: 5053. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5053

AR(androgen receptor(dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)); MIM number: 313700 OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?313700

FGFR3(fibroblast growth factor receptor 3(achondroplasia, thanatophoric dwarfism)); MIM number: 134934. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?134934

HGD(homogentisate 1,2‐dioxygenase(homogentisate oxidase)); MIM number: 203500. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?203500

PAH(phenylalanine hydroxylase); MIM number: 261600. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?261600

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How to Cite close
Scriver, Charles R(Jan 2006) Allelic and Locus Heterogeneity. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005481]