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[Problems of molecular genetics of inherited diseases].

[Article in Russian]

Author information

  • NII of Experimental Medicine RAMN, Saint-Petersburg.


The paper reviews the basic achievements in the study of human inherited diseases by applying the guidelines and technology of reversed genetics, outlines the results of genome mapping, positional cloning of disease loci, identification of gene mutations and DNA diagnosis of inherited diseases. It also discusses the problems of molecular heterogeneity of inherited diseases and of the relationships between the genotype and the biochemical and clinical phenotypes of diseases, gives the data on identification of genetic risk factors and polymorphic linked markers for some common diseases, and characterizes the lines in the development of approaches to gene therapy for inherited diseases.

[PubMed - indexed for MEDLINE]
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