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Information × Registration Number 0213U000421, 0110U001516 , R & D reports Title Genetic origin of reproductive losses on different stages of human ontogenesis. popup.stage_title Head Zastavna Danuta, Registration Date 04-03-2013 Organization Scientific-research institute of Hereditary pathology popup.description2 First time in Ukraine we conducted genotyping of allele variants of HLA-DRB1, HLA-DQA1 and HLA-DQB1 genes, belonging to II-class of Human Major Hystocompatibility Complex, in individuals with reproductive loss history. We established, that DRB1*1302 and DQB1*0604 alleles in women and DQB1*0304 allele in man should be considered as protective in estimation of habitual pregnancy losses risk, whereas possession of DQB1*0302 allele in men increased the risk. 50-100% homology of a couple considering allele variants of HLA-DRB1, HLA-DQA1 and HLA-DQB1 genes predicts negatively for normal pregnancy course. At first time we revealed that carrying the AB polymorphic locus ApaI of 9th exon of IGF-II gene significantly increases the risk of muscular weakness appearance (OR=2,34) and miscarriage (OR=7,72). At first time we extracted RNA from embryo tissues of miscarried fetuses and uncovered the loss of imprinting of IGF-II gene in more than 90% cases. First time in Ukraine we put into practice testing of 1138G>A and 1138G>С mutations of FGFR3 gene in order to diagnose achondroplasia. We were first to describe the dependence between Y-chromosome haplotype and partial deletions of AZFc region. Belonging to N haplogroup increases the risk of partial deletions of b2/b3 type and haplotype R1a1 predicts partial deletion of gr/gr type. We also established that appearance of 677ТT genotype of MTHFR gene in fetus increases the risk of miscarriage 7,5 times (Р<0,05). The obtained values for frequencies of alleles and genotypes of 677С"T та 1298А"С loci of MTHFR gene, 2756А"G of MTR gene and 66А"G of MTRR gene may be considered as control in different studies of genes, involved in folic acid turnover in different nosology cases. Product Description popup.authors Білевич Олена Борисівна Безкоровайна Галина МИхайлівна Гельнер Надія Володимирівна Гулеюк Наталія Любомирівна Дмитрук Ірина Михайлівна Заставна Данута Володимирівна Лотоцька-Савчак Оксана Юріївна Макух Галина Василівна Сєднєва Інга Андріївна Сосніна Катерина Олександрівна Тенета Мар'яна Михайлівна Терпиляк Ореста Ігорівна Тиркус Марта Ярославівна Ткач Ірина Романівна Третяк Богдан Іренейович Чорна Лілія Богданівна Яремцьо Оксана Романівна popup.nrat_date 2020-04-02 Close