Genetics
Modern genomics in studying the problems of human adaptation to climate in north Siberia
Volume 6, Issue №3, 2020
Background: Indigenous people of north Siberia live in some of the harshest natural conditions on Earth, experiencing prolonged exposure to cold, large fluctuations in the length of daylight, ...
2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations
Volume 6, Issue №3, 2020
Background: Neurodevelopmental disorders have a prevalence of approximately 3% in the population, the genetic factor is involved in this condition. Microdeletions that comprise the 2q14.1q14.3 region are rare ...
Association of RS12328675 COBLL1 polymorphism with coronary heart disease and intermediate phenotypes of atherosclerosis: validation study in Central Russia
Volume 6, Issue №2, 2020
Background: It is known that the development of coronary heart disease (CHD) as a polygenic multifactorial pathology is determined by a complex interaction between genetic and environmental factors. ...
Molecular karyotyping of chromosomal anomalies and copy number variations (CNVs) in idiopathic forms of intellectual disability and epilepsy
Volume 6, Issue №2, 2020
Background: Genetic factors play an important role in the etiology of idiopathic intellectual disability and epilepsy. The intensive introduction of molecular cytogenetic technologies in medical practice has made ...
A replicative study of the associations of polymorphic loci of the LOXL1 and CDKN2B-AS1 genes with the development of primary open-angle glaucoma in men of the Central Black Earth Region of the Russian Federation
Volume 6, Issue №2, 2020
Background: Studying the genetic foundations of primary open-angle glaucoma (POAG) is an urgent task due to the fact that glaucoma is the main cause of low vision and ...
Study of associations of haplotypes of FLG gene polymorphism with the development of chronic true eczema in men
Volume 6, Issue №2, 2020
Background: Eczema is a common chronic disease characterized by inflammation of the skin. The aim of the study: To analyze the involvement of haplotypes of polymorphic loci of ...
A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome
Volume 6, Issue №2, 2020
Background: Kallmann syndrome (KS) and CHARGE syndrome (CS) are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous with at least eight genes ...
ZNF804A rs1344706 gene polymorphism and clinical heterogeneity of schizophrenia
Volume 6, Issue №1, 2020
Background: Replication of genome-wide association study (GWAS) loci for schizophrenia in different populations as well as the study of their specificity for disease are important issues in searching ...
The contribution of gene-gene interactions of polymorphic loci of matrix metalloproteinases to susceptibility to primary open-angle glaucoma in men
Volume 6, Issue №1, 2020
Background: Primary open-angle glaucoma (POAG) is a serious form of eye diseases leading to blindness and disability. Glaucoma in men occurs in more than half of cases (65%). ...
The study of the association of polymorphic loci of the folate cycle genes with the development of the 2-3-degree fetal growth restriction syndrome
Volume 6, Issue №1, 2020
Background: Folate cycle enzymes regulate key reactions in folate-mediated single-carbon metabolism. The folate cycle disturbances may be associated with the occurrence of placental insufficiency with fetal growth restriction ...
The role of polymorphic variants of the contactin-associated-like protein-2 (CNTNAP2) gene in the formation of differences in anxiety levels
Volume 6, Issue №1, 2020
Background: The study of the multifactor nature of anxiety is caused by its role in multiple aspects of human development including physical and mental health, emotional sphere and social ...
Contribution of rs11927381 polymorphism of the IGF2BP2 gene to the pathogenesis of type 2 diabetes
Volume 6, Issue №1, 2020
Background: Pancreatic beta-cell dysfunction, along with the insulin resistance of peripheral tissues, is a key element in the pathogenesis of type 2 diabetes (T2D). In this regard, of ...
New data collection priority: focusing on genome-based bioinformation
Volume 6, Issue №1, 2020
Genetic research used to be data-driven under the framework of well-established gene theory. With the advance of various-omics technologies, large-scale data generation has become routine. However, data analyses ...
Population analysis of the polymorphic marker rs1002149 of the glutathione reductase gene in residents of the Republic of Bashkortostan and Abkhazia
Volume 5, Issue №4, 2019
Background: Positioned as one of the central members in cellular antioxidant defense, glutathione reductase (GSR) determines the oxidative status of a cell. The level of its activity changes in ...
Cytogenetic analysis in the era of high-resolution molecular-cytogenetic methods: the potential of «reverse» karyotyping
Volume 5, Issue №4, 2019
Background: The introduction of high-resolution molecular-cytogenetic methods to clinical practice has allowed to reveal complex “cryptic” structural chromosomal rearrangements, which could not be detected by a standard cytogenetic analysis. ...
The role of interaction of polymorphic loci of the FLG gene in the development of chronic true eczema in women
Volume 5, Issue №4, 2019
Background: Eczema is a multifactorial disease. Its development is determined by the polygenic basis and the action of inciting events of exogenous and endogenous nature. The aim of the ...
Effect of IL10 (rs1800872) and CXCL10 (rs4386624, rs4256246) genes polymorphism in the development of viral and bacterial infectious diseases
Volume 5, Issue №4, 2019
Background: Host-pathogenic interaction is a necessary but not sufficient precondition for the development of the disease. The immune response to the introduction of pathogen is largely controlled by genetic ...
Association of the mitochondrial DNA haplogroup H1 variants with the risk of acute cardiovascular events
Volume 5, Issue №4, 2019
Background: Mitochondria play a major role in providing cells with energy, but at the same time they are a source of free radicals that increase oxidative stress. It is ...
A clinical case of Proteus syndrome in an early age child
Volume 5, Issue №3, 2019
Despite the undoubted progress of medical science around the world, recently, there has been a tendency of an increase in the frequency of congenital malformations and hereditary diseases in ...
Search for binding sites for micro RNA in cis-regulatory sequences and in SNP in the lipid, carbohydrate metabolism, oxidative and anti-inflammatory homeostasis genes
Volume 5, Issue №3, 2019
Background: Polymorphisms and disruption of the expression profile of miRNA genes are associated with systemic diseases (autoimmune and cardiovascular diseases). The aim of the study: To study the localization of miRNA ...
