Livshyts' L. Nature, origin and ways of spreading of monogenic hereditary disease mutations

The dissertation is devoted to the study of nature, origin and mechanisms of spreading of mutant genes (CFTR, SMN, NAIP, FMR-1, dystrophin and AZF) in population of Ukraine and role of genetic heterogeneity for pathogenesis of severe monogenic hereditary diseases: cystic fibrosis, spinal muscular atrophy, Martin-Bell syndrome, Duchenne muscular dystrophy and nonobstructive forms of male infertility. First, the character of association between mutant genotype and clinical phenotype was determined in patients from Ukraine. The basic pattern of single gene mutation frequency maintenance in population of Ukraine is determined on the basis of our data about origin and spreading of mutated genes for these hereditary diseases. The strategy of mutant genes DNA-analysis for diagnosis and prevention of severe hereditary diseases in Ukraine is developed.