title: [The development of molecular human genetics and its significance for perspectives of modern medicine].
abstract: The introduction of molecular human genetics has become a paradigma for the application of genetic engineering in medicine. The main principles of this technology are the isolation of molecular probes, their application in hybridization reactions, specific gene-amplification by the polymerase chain reaction, and DNA sequencing reactions. These methods are used for the analysis of monogenic diseases by linkage studies and the elucidation of the molecular defect causing these conditions, respectively. They are also the basis for genomic diagnosis of monogenic diseases, introduced into the health care system of the GDR by a national project on Duchenne/Becker muscular dystrophy, Cystic Fibrosis and Phenylketonuria. The rapid development of basic research on the molecular analysis of the human genome and genomic diagnosis indicates, that human molecular genetics is becoming a decisive basic discipline of modern medicine.
authors.forename: C
authors.initials: C
authors.lastname: Coutelle
authors.forename: A
authors.initials: A
authors.lastname: Speer
authors.forename: K
authors.initials: K
authors.lastname: Grade
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: H D
authors.initials: HD
authors.lastname: Hunger
mesh_terms: D002648:Child; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005818:Genetic Engineering / Q000639:trends*; D005821:Genetic Techniques / Q000639:trends*; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
vernacular_title: Die Entwicklung der molekularen Humangenetik und ihre Bedeutung für die perspektive der modernen Medizin.