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Information × Registration Number 0221U102654, 0115U003747 , R & D reports Title Genetic and epigenetic factors of developmental disorders of nervous and reproductive systems. popup.stage_title Head Kravchenko Serhii А., к.б.н.Livshyts Liudmyla A., Доктор біологічних наук Registration Date 08-02-2021 Organization Institute of Molecular Biology and Genetics of NAS of Ukraine popup.description2 The aim of the study is to identify new mutations and epigenetic alterations in the genes that determine the development and functioning of the nervous and reproductive systems, as well as new genetic loci and candidate genes associated with the studied developmental disorders. Results. The novel structural and functional mechanisms of pathogenicity of mutations in the MECP2, PUS3, EPHA1, AR, WT1, FKBP4 genes were described. The spectrum of genomic reorganizations of the chromosomal region 15q11-q13 (deletions, uniparent, iso-, hetero- and segmental disomies) has been established. Carriers of minor allelic variants of studied polymorphisms in EPHA1, PARP1, GSTP1 and GSTM1 genes increase the relative risk of Alzheimer's disease, carriers of the combined homozygous genotype for the "wild type" alleles of EPHA1 and GSTP1 genes reduce the relative risk of this disease. Gender-related genetic and epigenetic modifiers of spinal muscular atrophy clinical phenotype have been identified: X-inactivation rate and rs4339766 X-linked gene UBA1. Mutant variants in AR and WT1 genes are registered in the international ClinVAR database and can be used for DNA diagnosis in patients with sex determination diseases. The novel algorithm for differential DNA diagnosis of Prader-Willi and Angelman syndromes has been developed, which allows detecting and differentiating the type and origin of 15q reorganizations. Implementation. Methodics of DNA diagnostics of nervous, endocrine and reproductive pathologies have been developed and implemented in 7 specialized medical institutions (9 acts of implementation). Product Description popup.authors Gorodna Oleksandra V. Hryshchenko Nataliya V. Gulkovskyi Roman V. Kozyrieva Кateryna О. Livshyts Ganna B. Nechyporenko Marina V. Pampukha Volodymyr M. Sirokha Dmytro А. Chernushyn Sergiy Yu. popup.nrat_date 2021-02-08 Close