title: [Molecular diagnosis of genetic diseases in Russia: current status and perspectives].
abstract: The paper reviews the current molecular diagnosis of common socially significant inherited diseases such as cystic fibrosis, Duchenne muscular dystrophy, hemophilia A and B, phenylketonuria. It also provides basic results of prenatal diagnosis of these diseases and detection of their heterozygous carriage in Saint Petersburg, as well as brief evidence for the molecular diagnosis in other Russia's areas. There is a need for increasing the number of hereditary diseases, such as Willebrand's disease, Martin-Bell syndrome, polycystic kidney, Huntington chorea, myotonic dystrophy, etc. to be diagnosed at the molecular level. Evidence is provided for the necessity to set up specialized medical genetic centers for diagnosing common inherited diseases and for the expediency of their implementation if more rare genetic diseases are diagnosed. Some perspectives for the molecular diagnosis of genetic diseases are briefly outlined. The paper discusses the significance of the studies to solve the basic problems of the "Human genome" programme and the tasks of health care.
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D015894:Genome, Human; D016045:Human Genome Project; D006801:Humans; D008967:Molecular Biology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis; D012426:Russia