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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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Finding genes and specific genetic variants responsible for disease

Finding genes and specific genetic variants responsible for disease

(p.53) Chapter 2 Finding genes and specific genetic variants responsible for disease
Human Genetic Diversity

Julian C. Knight

Oxford University Press

In this chapter different approaches to defining the genetic basis of disease are introduced including linkage analysis, positional cloning, linkage disequilibrium mapping and genetic association studies. The basis and applications of such approaches to diseases showing Mendelian patterns of inheritance and common multifactorial traits are reviewed. Considerable success has been achieved for Mendelian traits using a linkage and positional cloning based approach and this is illustrated for cystic fibrosis and Treacher Collins syndrome. The application of linkage disequilibrium mapping is described for diastrophic dysplasia. Genetic association studies to dissect the genetic factors contributing to susceptibility to common multifactorial disease are described including the limitations and successes of candidate gene analysis. A detailed review of the genetics of Alzheimer disease and venous thrombosis is presented which illustrates different approaches to defining the genetic basis of disease, and the underlying functional genetic variants which can be resolved.

Keywords:   genetic variation, linkage, positional cloning, genetic association, cystic fibrosis, Mendelian, APOE 4, Factor V Leiden, Alzheimer disease, thrombophilia

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