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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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Extreme diversity in the major histocompatibility complex

Extreme diversity in the major histocompatibility complex

(p.309) Chapter 12 Extreme diversity in the major histocompatibility complex
Human Genetic Diversity

Julian C. Knight

Oxford University Press

The Major Histocompatibility Complex on chromosome 6 encodes a diverse array of genes involved in the immune and inflammatory response. The region is remarkably polymorphic and has been associated with susceptibility to autoimmune and infectious disease. The approaches to defining and understanding the nature and consequences of genetic diversity in the MHC are reviewed in terms of the biology of encoded molecules, evolutionary selective pressures and relationship to disease. Progress in haplotypic analysis of the MHC, resequencing and fine mapping are discussed together with insights from structural biology and detailed functional characterisation of the consequences of genetic diversity. The role of genetic variation in the MHC for a number of specific diseases are reviewed including rheumatoid arthritis, haemochromatosis, type 1 diabetes, coeliac disease, narcolepsy and sarcoidosis with emphasis on progress in defining the functional basis of disease associations, for example modulation of alternative splicing by genetic variation associated with sarcoidosis.

Keywords:   major histocompatibility complex, MHC, human leucocyte antigen, HLA, genetic variation, polymorphism, haplotype, ancestral haplotype, ankylosing spondylitis, haemochromatosis

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