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Descriptor English: Genetic Heterogeneity
Descriptor Spanish: Heterogeneidad Genética
Descriptor heterogeneidad genética
Scope note: "Presencia de caracteres aparentemente similares de los cuales los datos genéticos indican que están implicados genes o mecanismos genéticos diferentes en distintas genealogías. En el contexto clínico, la heterogeneidad genética alude a la presencia de diversos defectos genéticos que causan la misma enfermedad, con frecuencia debidos a mutaciones en diferentes loci del mismo gen, un hallazgo frecuente en muchas enfermedades humanas como la ENFERMEDAD DE ALZHEIMER, la FIBROSIS QUÍSTICA, la DEFICIENCIA DE LIPOPROTEÍNA LIPASA FAMILIAR y las ENFERMEDADES RENALES POLIQUÍSTICAS. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)."
Descriptor Portuguese: Heterogeneidade Genética
Descriptor French: Hétérogénéité génétique
Entry term(s): Genetic Heterogeneities
Heterogeneities, Genetic
Heterogeneity, Genetic
Tree number(s): G05.365.331
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D018740
Scope note: The presence of apparently similar characters 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)
Allowable Qualifiers: DE drug effects
HI history
RE radiation effects
Public MeSH Note: 95
History Note: 95
Entry Version: GENET HETEROGENEITY
DeCS ID: 32225
Unique ID: D018740
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1995/01/01
Date of Entry: 1994/04/19
Revision Date: 2008/07/08
Genetic Heterogeneity - Preferred
Concept UI M0028075
Scope note The presence of apparently similar characters 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)
Preferred term Genetic Heterogeneity
Entry term(s) Genetic Heterogeneities
Heterogeneities, Genetic
Heterogeneity, Genetic



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