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Information × Registration Number 0211U008873, 0107U011952 , R & D reports Title The study of the I-II phase detoxification genes polymorphism among patients with monogen and multifactorial disordes popup.stage_title Head Akopyan Hayane, Доктор медичних наук Registration Date 17-11-2011 Organization Scientific-research institute of Hereditary pathology popup.description2 The electronic database of patients with monogenic syndromes Cornelia de Lange and Prader-Willi was established. The frequency of HFE gene C282Y mutation among CFTR F508del homozygotes as well as in patients with hepatobiliary and pancreatic pathology was significantly higher than the control group. The frequency of AA genotype of VDR-3gene polymorphic locus Apa I was two times higher in studied group in comparison with the data of the control group. NBS frequency in the population of Lviv region of Ukraine is 1 in 13640-34106 newborns, and the frequency of NBN gene 657del5 mutation heterozygous carriers is 1 in 58-95. For the first time found that in patients with cystic fibrosis from Ukraine the second most frequent mutation is 2184insA (7%) and first discovered a new CFTR mutation p.Tyr362X. Developed own modification of protocols F508del, CFTRdele2, 3 (21kb), G542X and N1303K mutations detection twice reduces effort and reagents. Genotype frequencies of polymorphic loci MTHFR A1298C and C677T and MTR 2756 AG are not statistically different in the studied and control groups. The frequency of MTRR 66GG genotype was significantly lower in the group of children with orofacial cleft and in the group of mothers of children with orofacial cleft than in the control with a significant increase in the proportion of heterozygotes 66 AG. 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