[Molecular genetics of human monogenic diseases]

The review deals with the analysis of the molecular basis of cytoplasmic genetic determinants and their contribution to inherited disease, as well as with the primary genetic defects underlying some single gene human disorders, such as hepatolenticular degeneration, alpha 1-antitrypsin deficiency, familial hypercholesterolemia, and cystic fibrosis. The results of molecular genetic studies of inherited diseases have been applied to the antenatal and preclinical diagnosis at the levels of mutant genes and anomalous proteins, gene products.