Search academic texts

Information × Registration Number 0225U004875, (0121U110054) , R & D reports Title Molecular-genetic mechanisms of human disorders of sexual development popup.stage_title Аналаз геномних реорганізацій типу CNV в групі пацієнтів з ПРДС в яких виявлені хромосмні аберації, а також у пацієнтів в яких за роезультатами попердніх досліджень не було виявлено патогенні мутації. Біоінформаційний аналіз патогенності виявлених перебудов геному. Head Livshyts Liudmyla A., д.б.н. Registration Date 22-12-2025 Organization Institute of Molecular Biology and Genetics of NAS of Ukraine popup.description1 Identify pathogenic mutations in determinant genes, disorders of which lead to diseases associated with impaired development of sex differentiation. Identify new candidate genes in which mutations are associated with impaired sex differentiation. Develop new effective information tools for the analysis of full-genome sequencing data to effectively assess the pathogenicity of identified genetic variants as a basis for genetic diagnosis and personalized therapy. popup.description2 Results. During the study, the nature and origin of new genetic variants (mutations) in known determinant genes leading to impaired development and differentiation of the genital organs were determined. According to the plan, a clinical and genealogical analysis was conducted among patients with impaired development and differentiation of the sexes from different regions of Ukraine, included in the study according to informed consent. Peripheral blood samples were obtained from patients and their family members (parents and, if available, other relatives) and genomic DNA preparations and, if necessary, mRNA were isolated and purified with subsequent cDNA synthesis. Subsequently, molecular cytogenetic analysis of patients was performed. In patients without chromosomal aberrations and mutations in genes included in the specific panel of genetic factors of disorders of sex development (AR, SRY, NR5A1, DMRT1), as well as in the parents of patients, whole-exome sequencing was performed. Validation of annotated mutant variants identified by whole-exome sequencing was performed by Sanger sequencing. A new candidate gene, STARD8(DLC3), was identified, mutations in which cause disorders of gonadogenesis. It was proven that mutations that disrupt the functioning of the C-terminal Start domain, encoded by the protein, lead to disorders of testicular development in embryogenesis. It is proposed to include this gene in a specialized diagnostic panel of genes. Product Description popup.authors Gorodna Oleksandra V. Kryl Nataliya M. Maryna V. Nechyporenko Hanna B. Livshyts Sirokha Dmytro А. Yuliia V. Nazarenko Andrii V. Dzobak popup.nrat_date 2025-12-22 Close