title: Polymorphically duplicated genes: their relevance to phenotypic variation in humans.
abstract: 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.
authors.affiliation: Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK. buckland@cf.ac.uk
authors.forename: Paul R
authors.initials: PR
authors.lastname: Buckland
mesh_terms: D017362:Cyclic AMP Response Element-Binding Protein; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics; D017353:Gene Deletion; D020131:Genes, Duplicate / Q000235:genetics*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D019389:Cytochrome P-450 CYP2D6