Recombinant DNA Technology in the Diagnosis of Human Inherited Disease

  • J. Schmidtke
  • D. N. Cooper


Over 3,000 Mendelian traits implicated in the pathology of human inherited disease, have been catalogued to date (1). Only a very small proportion can be diagnosed either antenatally or preclinically by conventional protein analysis. Moreover, many diseases are not amenable to antenatal genetic analysis since their diagnostic proteins are not present in the accessible foetal tissues. The advent of recombinant DNA technology has promised to circumvent these problems since direct investigation of the genetic material obviates the need for specific tissue samples. In addition, antenatal diagnosis and carrier detection of many genetic defects should be possible without the prerequisite of needing to identify either the primary gene product or the biochemical mechanism of the disease. Differing approaches to disease diagnosis will be described and the extent of their application to disease diagnosis to date, presented.


Spinal Muscular Atrophy Chronic Granulomatous Disease Marfan Syndrome Purine Nucleoside Phosphorylase Sandhoff Disease 
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Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • J. Schmidtke
    • 1
  • D. N. Cooper
    • 2
  1. 1.Institut für Humangenetik der Universität GöttingenGermany
  2. 2.Haematology DepartmentKing’s College HospitalLondonUK

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