Search academic texts

Information × Registration Number 0211U008872, 0107U011952 , R & D reports Title The study of polymorphic variants of folate metabolism genes among patients with monogenic and multifactorial disorders popup.stage_title Head Akopyan Hayane, Доктор медичних наук Registration Date 17-11-2011 Organization Scientific-research institute of Hereditary pathology popup.description2 The role the polymorphic variants of folate metabolism genes, detoxification genes and monogenic diseases genes in the occurrence and clinical course of widespread human pathology are studied. It has been elaborated the molecular-genetic analysis of allelic variants of polymorphic loci 677 CT and 1298 AC of methylenetetrahydrofolate reductase gene, 2756 AG of methionine synthase gene and 66AG of reductase of methionine synthase gene. The distribution of alleles and genotypes among patients with orofacial clefts and their mothers, women with reproductive losses, mothers of children with neural tube defects and the control group are reported. It has created a database and DNA bank of children at increased risk of developing chronic hepatobiliary and / or pancreatic insufficiency in order to further verifing hereditary hemochromatosis by molecular genetic testing. Among 8 probands with phenylketonuria three homozygotes and heterozygotes for the three mutation R408W of PAH gene were detected. Homozygous carriers of the "zero" allele of the gene GSTM1 were significantly more common among Nijmegen Breakage syndrome and in patients with orofacial cleft than in the control group of individuals. Among 45 children with Nijmegen syndrome clinical suspicion 3 homozygous for mutation 657del5 of NBN1 gene were identified. A molecular genetic study of ATM gene mutations in 19 individuals with clinical signs of ataxia-telangiektazia and their families have been done. 5 prenatal molecular-genetic diagnostics were conducted in order to prevent Nijmegen Breakage syndrome. Product Description popup.authors Акопян Гаяне Рубенівна Білевич Олена Борисівна Гнатейко Олег Зіновійович Кеч Наталя Романівна Макух Галина Василівна Маркевич Наталя Володимирівна Осадчук Зоряна Василівна Печеник Сергій Олегович Савчик Борис Олексійович Тиркус Марта Ярославівна Третяк Богдан Іринейович Чорна Лілія Богданівна popup.nrat_date 2020-04-02 Close