Polymorphically duplicated genes: their relevance to phenotypic variation in humans

Buckland, Paul Robert 2003. Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Annals of Medicine 35 (5) , pp. 308-315. 10.1080/07853890310001276

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Informa Healthcare
ISSN:	0785-3890
Last Modified:	05 Feb 2020 03:40
URI:	https://orca.cardiff.ac.uk/id/eprint/57915

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