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The Use of Cloned DNA Fragments to Study Human Disease

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Book cover Genetic Engineering

Part of the book series: Genetic Engineering ((GEPM))

Abstract

Recombinant DNA methods have revolutionized molecular genetics in the past several years. They now afford the opportunity to isolate, characterize and modify individual genes, and finally introduce them into living cells or into in vitro systems. In effect, the “new genetics” permits construction in the laboratory of selected mutants that may facilitate correlation of gene structure and function. An alternate approach towards the same ultimate goals is to exploit naturally-occurring mutations. Such mutations are distributed throughout human populations and often lead to severe phenotypic consequences in inherited diseases. A central aim in many laboratories using the new molecular techniques is to characterize underlying genetic defects in human DNA in the hope that this strategy will provide not only a fuller understanding of the diseases themselves but also insights into normal gene expression and development. In addition, the methods employed to date have already resulted in development of new, specialized means for the prenatal detection of genetic diseases that many families wish to avert.

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Author information

Authors and Affiliations

  1. Division of Hematology and Oncology, Children’s Medical Center, Boston, Massachusetts, 02115, USA

    Stuart H. Orkin

  2. Department of Pediatrics Harvard Medical School, The Sidney Farber Cancer Institute, Boston, Massachusetts, 02115, USA

    Stuart H. Orkin

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  1. Stuart H. Orkin
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Editors and Affiliations

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

    Jane K. Setlow

  2. Associated Universities, Inc., Washington, D.C., USA

    Alexander Hollaender

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Orkin, S.H. (1981). The Use of Cloned DNA Fragments to Study Human Disease. In: Setlow, J.K., Hollaender, A. (eds) Genetic Engineering. Genetic Engineering. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-7075-2_8

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  • DOI: https://doi.org/10.1007/978-1-4615-7075-2_8

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