title: [Successes and prospects of molecular diagnosis of the most widespread inherited diseases].
abstract: Current state of molecular diagnosis of hereditary diseases most common in the former USSR such as cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B as well as phenylketonuria is reviewed. Basic results of prenatal diagnosis and carrier detection of the above mentioned diseases in St.-Petersbourg and somewhere else in Russia are presented. The urgent necessity to start an efficient molecular diagnosis of some other widespread hereditary diseases (von Willebrand's disease, Martin-Bell syndrome, polycystic kidney. Huntington chorea, myotonic dystrophy, etc.) is emphasized. Creation of new diagnostic centers dealing with most common diseases as well as complementing each other as to molecular diagnosis of more rare hereditary diseases is substantiated. Prospects of implementation of new molecular methods and novel technical approaches (preimplantation embryos, fetal cells selected from maternal blood) for more efficient diagnosis of hereditary diseases are briefly outlined.
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006467:Hemophilia A / Q000175:diagnosis; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis; D010661:Phenylketonurias / Q000175:diagnosis
vernacular_title: O nekotorykh uspekhakh i perspektivakh molekuliarnoĭ diagnostiki naibolee rasprostranennykh nasledstvennykh zabolevaniĭ.