[Molecular basis of human hereditary diseases caused by gene expression deficiency].

The recent literature on the structure of mutant human genes determining the phenotypic expression of hereditary diseases is reviewed. The main types of gene mutations are described including deletions and insertions, mutations impairing translation and posttranslational protein processing, m-RNA processing, causing transcription blocks, ultimate or partial quantitative deficiency in proteins-gene products. The problems of genetic heterogeneity of hereditary diseases and diagnosis of the latter on the DNA-level are discussed.