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Human Genetic DiversityFunctional Consequences for Health and Disease$
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Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

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Copy number variation in health and susceptibility to disease

Copy number variation in health and susceptibility to disease

(p.105) Chapter 4 Copy number variation in health and susceptibility to disease
Human Genetic Diversity

Julian C. Knight

Oxford University Press

In this chapter submicroscopic structural variation is described with a particular focus on copy number variation. There is a growing body of evidence to show that copy number variation is a common and important class of genetic variation. Recent technological advances for mapping the extent of copy number variation including microarray based comparative genomic hybridisation are described, together with the results of large scale surveys of copy number variation among healthy individuals. The consequences of such genetic diversity for gene expression are discussed. The important role of copy number variation in susceptibility to a variety of common multifactorial traits is described including infectious and autoimmune disease. Copy number variation is also discussed in relation to evidence for selection in relation to copy number of the gene encoding salivary amylase and a high starch diet, and in relation to drug metabolism with important consequences for pharmacogenomics.

Keywords:   copy number variation, structural variation, array comparative genomic hybridisation, duplication, deletion, HIV-1, psoriasis, autoimmune disease, pharmacogenomics, salivary amylase

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