Diagnosis of Human Heritable Defects by Recombinant DNA Methods

C. T. Caskey, R. A. Gibbs, J. A. Witkowski, J. F. Hejtmancik

Abstract

Recombinant DNA methods provide highly sensitive means for the detection of DNA alterations that lead to human disease mutations. In this paper I shall illustrate the approaches currently available and discuss new technologies that show promise of replacing the present methods. Medical diagnosis by means of recombinant DNA methods has an expanding role in clinical medicine.