Abstract
Object of research: homozygous and heterozygous disorders of genes encoding the enzymes of the folate cycle, methylenetetrahydrofolate reductase (MTHFR) and methionine-synthase-reductase (MTRR).
 Solved problem: an in-depth study of genetically determined risk factor’s influence for reproductive losses associated with homozygous and heterozygous disorders of folate cycle genes.
 Main scientific results: in-depth study of genetically determined reproductive losses as a systemic phenomenon was held. The structural characteristics of reproductive losses in population and significant predominance of pathology in the pedigrees of those examined with a burdened obstetric history of reproductive losses were determined. Also, a significant increase in the chances of reproductive loss in patients with heterozygous and homozygous inheritance of MTHFR and MTRR genes was determined. A correlation effect on the degree of genomic polymorphism of the MTHFR and MTRR gene was noted.
 Area of practical use of research results: medical-genetic institutions.
 Innovative technological product: determination of genetically risk factors for growth of reproductive losses of the population associated with homozygous and heterozygous disorders of genes encoding the enzymes of the folate cycle (MTHFR C677T and MTRR A66G). Timely adjustment of folic acid levels allows to prevent birth defects and reduce reproductive losses
 Scope of application of the innovative technological product: clinical medical-genetic practice using the ability to determine the polymorphism of genes MTHFR and MTRR, which makes it possible to timely adjust the level of folic acid and prevent the reproductive losses.
Highlights
IntroductionProblem description Modern development of molecular genetic technologies allows timely to diagnose hereditary diseases, which cause a significant part of reproductive losses (RL)
According to the results of a prospective study of 154 patients from DG, reproductive losses (RL) cases in anamnesis, which were represented by miscarriages, missed abortion, antenatal death, early neonatal death, ectopic pregnancies, multiple fetal birth defects, incompatible with life, were identified
Determined RL are primarily associated with miscarriage and congenital malformations of embryo, fetus and newborn
Summary
Problem description Modern development of molecular genetic technologies allows timely to diagnose hereditary diseases, which cause a significant part of reproductive losses (RL). For the solution of the whole task, the etiological factors and diagnostic markers for the destruction of human embryogenesis and development of the fetus (biochemical, molecular-genetic, cytogenetic, instrumental, etc.) permanently studied in all sides of the world. High rates of miscarriage and life-threatening birth defects depend on genetic factors [3, 4]. This fact confirms the relevance and significance of our research
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