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Information × Registration Number 0217U003243, 0114U001551 , R & D reports Title The role of genetic polymorphisms of DNA reparations and methylation programs in clinical polymorphism of human diseases and predisposition to the appearance of somatic and germinal mutations. popup.stage_title Head Akopyan Hayane, Доктор медичних наук Registration Date 30-01-2017 Organization Scientific-research institute of Hereditary pathology popup.description2 The DNA bank of SI "Institute of hereditary diseases of NAMS of Ukraine" was increased with samples of patients with studied monogenic and multifactorial diseases and has over 10,000 DNA samples. It was carried out verification of orphan diseases: Nijmegen breakage syndrome, cystic fibrosis, achondroplasia by molecular genetic analysis of new cases. The registry of 178 cystic fibrosis cases in Ukraine at the European registry (ECFSPR) for the period 2011-2015 was established using ecfstracker.eu. Electronic database of patients with Marfan syndrome and Ehlers-Danlos syndrome was supplemented with new data. In establishing screening algorithm Gaucher disease most revealing was determined the presence of anemia: 86% of all surveyed children. The diagnostic value of the titer autoantibodies to the protein eEF1A1 as a possible marker of early diagnosis of diabetes is studied. It was found that the frequency of mutant MTHFR 677T allele was significantly higher among women with fetal heart defects in comparison with the control group (28% and 46%, p = 0.05) and 677CC MTHFR genotype frequency were significantly more frequent in the control group (53. 3% to 23.1%; p = 0.042). For the first time is was show significantly higher frequency of the genotypes CC and CT of polymorphic loci C590T IL4 gene in children with frequent acute respiratory diseases and BOS syndrome compared with controls, the genotype TT of polymorphic loci C33T IL4 gene in healthy individuals compared with those sick children. It is proved that the presence of the 590CT genotype of IL4 gene 3-fold increases the risk of frequent acute respiratory infections and recurrent bronchitis. It was shown that the presence of high expression TYMS gene genotype (3G / 3G, 2R / 3G and 3C / 3G) increase the likelihood of de novo mutations in the germ cells of women (OR = 3,71, CI 95% 1.50 - 9,14; p ? 0,05) causing hereditary diseases, achondroplasia or hypohondroplasia. It was obtained comparative data on the distribution of alleles and genotypes of polymorphic variants of MTHFR gene, MTR and TYMS among parents of children with achondroplasia or hypohondroplasia. Product Description popup.authors Акопян Гяяне Рубенівна Влох Марта Володимирівна Дмитрук Ірина Михайлівна Кенс Олена Володимирівна Кеч Наталія Романівна Ковалів Ірина Богданівна Макух Галина Василівна Осадчук Зоряна Василівна Пронів Наталя Володимирівна Тиркус Марта Ярославівна Третяк Богдан Іренеєвич Чайковська Галина Степанівна Чорна Лілія Богданівна Шаргородська Євгенія Борисівна popup.nrat_date 2020-04-02 Close