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Information × Registration Number 0223U000373, 0119U003649 , R & D reports Title The study of genetic factors of clinical course of monogenic and multifactorial diseases popup.stage_title Head Akopian Gayane R., Доктор медичних наук Registration Date 06-01-2023 Organization State institution "Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine" popup.description2  Significant allelic heterogeneity of cases of cystic fibrosis in the Ukrainian population (alleles and 68 genotypes of the CFTR gene) was established. According on the results of studies of carriers of mutations in the PAH gene (hyperphenylalaninemia, phenylketonuria), the frequency of identification of the major mutation R408W and minor mutations: IVS10nt-11G>A, R158Q, Y414C and R252W was determined. The method of diagnosis of congenital immunodeficiencies in newborns by measuring the number of copies of TRECs and KRECs by PCR in real time was set up. Using the polymerase chain reaction in real time of the SMN1 gene the method of neonatal screening of spinal muscular atrophy was set up. As part of the implementation of the state mass neonatal screening program 618 DNA samples of newborns were analysed. In the structure of congenital heart defects diagnosed in the prenatal period, hypoplasia of the left heart, tetrad of Fallot, and defects of the interventricular and interatrial septa were prevailed. Chromosomal abnormalities were confirmed in 4.1% of prenatally diagnosed cases. For the first time, a mutation c.493G>T (p.Glu165*) of the ZEB2 gene (Mowat–Wilson syndrome) was described in a foetus with congenital heart defect. The titter of antibodies to the eEF1A protein was statistically significant (p<0.05) increased in serum samples from patients with childhood type I diabetes compared to controls. This increases the possibility to use it as a prospective prognostic and diagnostic marker. The efficiency of using new generation sequencing methods (NGS, WES, arrCGH) for verification of the hereditary nature of high-risk cases with atypical clinical presentation was studied. Using of new generation sequencing methods allowed 78 out of 146 (44.3%) patients to complete the diagnostic process and focus on the applying of adequate therapy for a disease. This is of great medical, social, and economic importance. Product Description popup.authors Haiboniouk Ivanna Dushar Mariya Kovaliv Iryna Makukh Halyna Osadchuk Zoryana Tyrkus Marta Tretjak Bogdan Chorna Lilya Sharhorodska Yevgeniya popup.nrat_date 2023-01-06 Close