[Molecular-genetic heterogeneity of hereditary diseases].
The review describes the results of the investigations into molecular heterogeneity of monogenic inherited diseases which could be revealed at the levels of the structure of mutant genes, biochemical phenotype of disease and its clinical manifestations. The multilocus origin of some diseases, the patterns of gene mutations, their types, the blocks of the gene expression and the variability of the biochemical phenotypes of diseases are characterized. The data concerning trans-acting mutations causing the specific secondary alterations of the biochemical phenotype and corresponding clinical manifestations are summarized. Some mechanisms of the suppression of pathological phenotype are analyzed.
Gaĭtskhoki
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D015870:Gene Expression; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype