title: Diagnosis of human heritable defects by recombinant DNA methods.
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.
mesh_terms: D004274:DNA, Recombinant; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005818:Genetic Engineering / Q000379:methods; D005821:Genetic Techniques; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004274:DNA, Recombinant