Phenomena and Processes

Genetic Heterogeneity

The presence of apparently similar characteristics for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

National Library of MedicineMedical Subject Headings2026

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Abstract

The presence of apparently similar characteristics for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

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6 entry terms
  • Heterogeneity, Genetic
  • Genetic Heterogeneities
  • Heterogeneities, Genetic
  • Allelic Heterogeneity
  • Heterogeneity, Allelic
  • Locus Heterogeneity

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3 allowable subheadings

Indexed with the subheadings drug effects, history, radiation effects.

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95

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References

  1. National Library of Medicine. Genetic Heterogeneity. Medical Subject Headings (MeSH). 2026. Unique ID D018740. http://id.nlm.nih.gov/mesh/2026/D018740
  2. Genetic Heterogeneity. In: Wikipedia. https://en.wikipedia.org/wiki/Genetic_heterogeneity
  3. Genetic Heterogeneity. In: Wikidata. https://www.wikidata.org/wiki/Q3733697