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Detection of Single Nucleotide Variations

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Genetic Engineering

Part of the book series: Genetic Engineering ((GEPM,volume 20))

Abstract

Advances in molecular biology and genetics in recent years have made it possible to identify the molecular defects in many genetic disorders with simple Mendelian inheritance with the positional cloning approach (1). Crucial to the success of this approach is the initial localization of the disease locus by linkage analysis, that is, analyzing for co-inheritance of genetic markers and the disease in affected kindreds (2). Once the disease locus is narrowed down to a manageable region of the chromosome, cand idate genes are identified and screened for mutations. The highly informative microsatellite markers are the markers of choice in linkage analysis and useful genetic maps based on microsatellite markers have been constructed for this purpose (3). In contrast, the discovery of genetic factors for complex diseases (those involving multiple genes) such as heart disease, diabetes, schizophrenia and susceptibility to cancer has been slow in coming. For such complex inherited diseases, linkage analysis has limited power, since mutations in a number of genes can contribute incrementally to disease development (4).

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Author information

Authors and Affiliations

  1. Division of Dermatology, Washington University School of Medicine, St. Louis, MO, 63110, USA

    Pui-Yan Kwok & Xiangning Chen

Authors
  1. Pui-Yan Kwok
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  2. Xiangning Chen
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Editor information

Editors and Affiliations

  1. Brookhaven National Laboratory, Upton, New York, USA

    Jane K. Setlow

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© 1998 Springer Science+Business Media New York

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Kwok, PY., Chen, X. (1998). Detection of Single Nucleotide Variations. In: Setlow, J.K. (eds) Genetic Engineering. Genetic Engineering, vol 20. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-1739-3_6

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  • DOI: https://doi.org/10.1007/978-1-4899-1739-3_6

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4899-1741-6

  • Online ISBN: 978-1-4899-1739-3

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