Biopolymers and cell. 1990. Volume 6. № 1. 31 - 46
V. S. Gaitskhoki
MOLECULAR HETEROGENEITY OF HUMAN HEREDITARY DISEASES AND PROBLEMS OF THEIR GENE THERAPY
Summary
The paper represents a review of up-to-date considerations concerning the primary mechanisms responsible for the deficiency of protein gene products in human hereditary diseases. The molecular bases of the genetic and phenotypic heterogeneity of hereditary diseases are analyzed. This heterogeneity could be due to various intra- and extragenic mutations causing either complete or partial blocks at various levels of gene expression (disturbances in the coding specificity of genes, insufficiency in transcription, mRNA processing, its translation, blocks of protein processing and its intracellular traffic). The problems of gene therapy of hereditary diseases are discussed in relation to their heterocencitv.