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Information × Registration Number 0211U008874, 0107U011952 , R & D reports Title To investigate the contribution of allelic and nonallelic polymorphisms in the clinical heterogeneity of monogenic and multifactorial diseases of man popup.stage_title Head Akopyan Hayane, Доктор медичних наук Registration Date 17-11-2011 Organization Scientific-research institute of Hereditary pathology popup.description2 The studyof the role of CFTR, NBN, SMN1, HFE MTHFR, MTR, MTRR genes allelic polymorphism, D3 vitamin receptor, detoxication system in realization of monogenic diseases and in emerging and clinical manifestation of common human pathology was carried out. High frequency of 657del5 NBN gene mutation heterozygous carriage point out at the increased expectancy of NBN - mutant background of cancer diseases in West Ukraine. Among probands with SMA suspicion in 32 (35,2%) cases SMN1 gene 7 and 8 exon deletions were found in homozygous state. Among 53 probands with clinical symptoms of muscular dystrophy 10 cases of different kinds of DMD gene hemizygous deletions were established. First established, among CF patients from Ukraine 2184insA mutation is the second most common mutation. We hypnotize that this mutations is Galicia's origin. High HFE C282Y and H63D mutation frequencies point at necessity of doctor's increasing watchfulness concerning HH diagnostics. Alelle t of TaqІ VDR-3 gene polymorphic locus in homozygous as well heterozygous state is associated with low bones density. It has been initiated the studies of gene polymorphism that could have an effect on epidemic influenza caused pneumonias. The distribution of MTHFR 677СТ and 1298АC, MTR 2756AG and MTRR 66AG was established in correlation with homocystein level among patients with multyfactorial disorders. Product Description popup.authors Акопян Гяяне Рубенівна Білевич Олена Борисівна Гнатейко Олег Зіновійович Кеч Наталія Романівна Макух Галина Василівна Маркевич Наталя Володимирівна Осадчук Зоряна Василівна Печеник Сергій Олегович Савчик Борис Олексійович Тиркус Марта Ярославівна Третяк Богдан Іренеєвич Чорна Лілія Богданівна popup.nrat_date 2020-04-02 Close