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Medical Definition of Genetic heterogeneity
1. 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's disease, cystic fibrosis, lipoprotein lipase and polycystic kidney disease. (12 Dec 1998)