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Information × Registration Number 0219U101377, 0116U005341 , R & D reports Title Genetic preconditions for the development and correction of hereditary diseases in different stages of humans and animals ontogenesis. popup.stage_title Head Fedota Olena M., Доктор біологічних наук Registration Date 12-07-2019 Organization V.N. Karazin Kharkiv National University popup.description2  It ispresented the results of research of genetic pathology burden in eight districts of Kharkiv region.The general burden of genetic disorders in pediatric population was 0.47% in Balakliia district, 0.47% in Blyzniuky district, 0.30 in Bogodukhiv district, 0.27% in Vovchansk district, 0.29% in Dvorichna district, 0.37% in Zmiiv district, 0.36% in Izium district,and 0.41% in Krasnohrad district. There were 47nosological forms of monogenic disorders with different types of inheritance and3 forms of chromosome disorders. The only sensorineural hearing loss and hypopituitarism were common for all the districts amongsingle-gene diseases, and only Down syndrome was a common chromosome disease for all of them. In general, the obtained results showed that the characteristics of genetic pathology were comparable to those in most regions of Ukraine and Eastern Europe. The idea of comparability of genetic burden parameters of East Ukraine population with European one. The critical value 20% for the level of DNA fragmentation in the sperm for men in Eastern Ukraine is established. It is shown that the levels of DNA fragmentation and aneuploidies in sperm increase in men over 35 years, range 20–75% and 1,3–4,5% respectively. The link between single-nucleotide polymorphisms C677T and A1298S of MTHFR gene and A66G of MTRR gene with the aneuploidy in sperm in the ejaculate of men in Eastern Ukraine with low fertility is proved. Association of single-nucleotide polymorphisms G919A and A2039G of FSHR gene with an excess of DNA fragmentation in the sperm mark of 20% in patients with low fertility is demonstrated. The arguments for a genetic heterogeneity of azoospermia are proposed. The DNA fragmentation index of sperm higher then 5.0% and aneuploidies level higher than 1.3% in sperm leads to failures of the formation of blastocysts in IVF programs.The highest frequency of aneuploidy is observed among the preimplantation embryos (69.1 %) and the embryos stopped in development Product Description popup.authors Fedota Olena M. popup.nrat_date 2020-04-02 Close