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Single-Nucleotide Polymorphisms

Technology and Applications

  • Protocol
Medical Biomethods Handbook

Part of the book series: Springer Protocols Handbooks ((SPH))

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Abstract

The genomics revolution is transforming epidemiology, medicine, and drug discovery (1–7) and there is an ongoing refocusing of effort away from family-based linkage studies toward population-based genetic association studies for complex phenotypes (3,8–11). The generation of new genomic knowledge and its integration into epidemiological and clinical research projects in industry and academia are exponentially increasing trends. The genetic basis of disease susceptibility, disease progression and severity, and response to therapy for many complex conditions has been increasingly emphasized in medical research, with the ultimate goal of improving preventive strategies, diagnostic tools, and therapies (4,5,12,13). Enormous effort in both academia and industry has been expended in genetic studies of complex human diseases over the last decade. Concomitant technical developments in molecular genetics and in the use of polymorphism directly derived from DNA sequence have occurred, and extensive catalogs of DNA sequence variants across the human genome have been constructed (14–16) (see the Appendix, p. 247). The completion of the human genome project and the application of highthroughput technologies for polymorphism detection to the investigation of complex disease genetics has created unprecedented opportunities for understanding the pathogenic basis of common human diseases (1,16).

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Authors and Affiliations

  1. Department of Clinical Immunology and Biochemical Genetics, Royal Perth Hospital, Perth, Australia

    Cyril Mamotte

  2. Department of Clinical Immunology and Biochemical Genetics, Royal Perth Hospital; School of Surgery and Pathology, University of Western Australia, Perth, Australia

    Frank Christiansen

  3. Western Australian Institute for Medical Research, Centre for Medical Research, School of Population Health, University of Western Australia, Perth, Australia

    Lyle J. Palmer

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  1. Cyril Mamotte
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  2. Frank Christiansen
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  3. Lyle J. Palmer
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Editors and Affiliations

  1. University of Hertfordshire, Hatfield, UK

    John M. Walker  & Ralph Rapley  & 

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Mamotte, C., Christiansen, F., Palmer, L.J. (2005). Single-Nucleotide Polymorphisms. In: Walker, J.M., Rapley, R. (eds) Medical Biomethods Handbook. Springer Protocols Handbooks. Humana Press. https://doi.org/10.1385/1-59259-870-6:227

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  • DOI: https://doi.org/10.1385/1-59259-870-6:227

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-288-9

  • Online ISBN: 978-1-59259-870-0

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