Application of the polymerase chain reaction to the diagnosis of human genetic disease.
In vitro DNA amplification by means of the polymerase chain reaction is currently revolutionizing human molecular genetics. Since its inception in 1985, a wide variety of different methods and their applications in the diagnosis of disease have been described. This review is intended to serve as a brief guide to current and emerging possibilities in this rapidly expanding field.
Institut für Humangenetik, Universität, Göttingen, Federal Republic of Germany.
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D000755:Anemia, Sickle Cell / Q000175:diagnosis; D003550:Cystic Fibrosis / Q000175:diagnosis; D005544:Forecasting; D005784:Gene Amplification; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006467:Hemophilia A / Q000175:diagnosis; D002836:Hemophilia B / Q000175:diagnosis; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis; D016133:Polymerase Chain Reaction; D019896:alpha 1-Antitrypsin Deficiency