Polymorphically duplicated genes: their relevance to phenotypic variation in humans

Ann Med. 2003;35(5):308-15. doi: 10.1080/07853890310001276.


A number of disorders are known to be caused by duplication of genes, but these are all rare events. However, there is evidence that polymorphic gene duplication may be common and a growing number of genes are known to be duplicated in a polymorphic manner although phenotypes cannot be associated with most of these. Gene duplication occurring due to cytogenetic abnormalities such as Down syndrome predisposes the patients to a variety of complex disorders. It is possible therefore that many complex disorders and variable phenotypes are associated with duplication of genes.

Publication types

  • Review

MeSH terms

  • Cyclic AMP Response Element-Binding Protein
  • Cytochrome P-450 CYP2D6 / genetics
  • Gene Deletion
  • Genes, Duplicate / genetics*
  • Humans
  • Muscular Atrophy, Spinal / genetics
  • Nerve Tissue Proteins / genetics
  • Phenotype
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics
  • RNA-Binding Proteins
  • SMN Complex Proteins


  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Cytochrome P-450 CYP2D6