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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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Segmental duplications and indel polymorphisms

Segmental duplications and indel polymorphisms

(p.143) Chapter 6 Segmental duplications and indel polymorphisms
Human Genetic Diversity

Julian C. Knight

Oxford University Press

In this chapter the theme of structural genomic variation is continued with a particular focus on segmental duplications. The origins and extent of segmental duplications in humans and other species is described. Evidence of the important role played by segmental duplications in gene creation and evolution are described. Models for evolution of multigene families are discussed involving gene duplication with a description of olfactory and globin supergene families, together with the immunoglobulin gene family and how remarkable diversity of immunoglobulin proteins is achieved through a number of different mechanisms. The relationship between segmental duplications and chromosomal rearrangements, genomic disorders and copy number variation is discussed before a detailed review of the role of segmental duplication, deletion and gene conversion in colour vision and Rhesus blood groups. The final part of the chapter describes insertion/deletion (indel) polymorphisms notably involving sequence level variation; the extent and importance of such diversity is reviewed.

Keywords:   segmental duplication, duplication, deletion, gene creation, evolution, multigene families, immunoglobulin, colour vision, rhesus blood group, indels

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