Genetic heterogeneity

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Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.[1] This is in contrast to pleiotropy, where a single gene may cause multiple phenotypic expressions or disorders. Genetic heterogeneity describes genetic variation from the normal population. Clinically, genetic heterogeneity refers to diseases that result from multiple gene abnormalities.[2] Multiple gene abnormalities are seen in disorders such as autism, cystic fibrosis, and retinitis pigmentosa.[3]

Role in medical disorders[edit]

Genetic Heterogeneity is responsible for the presence of many medical disorders in humans.[4] Heritable diseases are a result of a genotype that varies from the population standard.[4] In relation to diseases, one gene mutation (varying from population) can cause a phenotypic disorder. The mutation can be expressed differently in different individuals. Additionally, mutations in multiple genes can result in phenotype of one disorder.


Genetic heterogeneity is present in many disorders. Multiple gene abnormalities are seen in disorders such as autism, cystic fibrosis, and retinitis pigmentosa. An inherited predisposition for the development of breast cancer has been investigated. Multiple alleles are involved in this disease.[5]

Mental Illnesses[edit]


Cystic fibrosis[edit]

Retinitis Pigmentosa[edit]

Mechanisms of mutations[edit]

Allelic heterogeneity means that different mutations within a single gene locus (forming multiple alleles of that gene) cause the same phenotypic expression. For example, there are over 1000 known mutant alleles of the CFTR gene that cause cystic fibrosis.

Locus heterogeneity means that variations in completely unrelated gene loci cause a single disorder. For example, retinitis pigmentosa has autosomal dominant, autosomal recessive, and X-linked origins. However, only one mutant locus is needed for the phenotype to manifest.


  1. ^ Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition. Elsevier Limited, 2007. ISBN 978-0-7020-2917-2
  2. ^ "Genetic Heterogeneity". NCBI. Retrieved November 19, 2015. 
  3. ^ NCBI Retrieved November 24, 2015.  Missing or empty |title= (help)
  4. ^ a b McClellan, J; King, M (2010). "Genetic heterogeneity in human disease". Cell. 141 (2): 210–7. doi:10.1016/j.cell.2010.03.032. PMID 20403315. 
  5. ^ Walsh T; Lee MK; Casadei S; et al. (July 2010). "Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing". Proc. Natl. Acad. Sci. U.S.A. 107: 12629–33. doi:10.1073/pnas.1007983107. PMC 2906584Freely accessible. PMID 20616022.