Genetics
The applicability of interphase chromosome-specific multicolor banding (ICS-MCB) for studying neurodevelopmental and neurodegenerative disorders
Volume 5, Issue №3, 2019
Background: Interphase chromosome-specific multicolor banding (ICS-MCB) has been developed for studying whole chromosomes in interphase nuclei at any stage of the cell cycle at molecular resolution. Previously, important biomedical ...
Familial translocation t(5;11)(q32;q23) resulting in Jacobsen syndrome and distal trisomy 5q31 in a female patient
Volume 5, Issue №3, 2019
Background: Jacobsen syndrome is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 (prevalence 1/100,000 live births). Most ...
Analysis of the association between C936T VEGFA gene polymorphism and diabetic foot syndrome in the Ukrainian population
Volume 5, Issue №2, 2019
Background: The dysfunction of vascular endothelial growth factor A (VEGFA) is one of the leading factors of macro- and microangiopathy development in diabetic foot syndrome (DFS) patients. Recently, a ...
Analysis of polymorphic gene loci of antioxidant protection enzymes in three ethnic groups of the Republic of Bashkortostan
Volume 5, Issue №2, 2019
Background: The ideal dose of drugs varies widely among patients, mainly due to genetic factors. Introduction to clinical practice of pharmacogenetic testing in a certain region should be preceded ...
An update on small supernumerary marker chromosomes (sSMC)
Volume 5, Issue №2, 2019
Background: Small supernumerary marker chromosomes (sSMCs) are a clinical problem in prenatal and postnatal diagnostic cases. They include few well-defined clinical syndromes, like cat eye syndrome or Emanuel ...
Epidеmiоlоgy оf hеrеditаry skin disеаsеs in thе pоpulаtiоn оf thе Rоstоv region
Volume 5, Issue №2, 2019
Background: Hereditary skin diseases (HSD) – a group of diseases, mediated by mutations in the genes, responsible for the formation and function of the skin. Literature data on the ...
Molecular cytogenetic study of preterm infants: genomic anomalies detection
Volume 5, Issue №1, 2019
Background: The intensive implementation of molecular cytogenetic technologies into medical practice has made it possible to detect genomic rearrangements with previously unavailable resolution (molecular karyotyping), including premature and ...
Using the method of Multifactor Dimensionality Reduction (MDR) and its modifications for analysis of gene-gene and gene-environment interactions in genetic-epidemiological studies (review)
Volume 5, Issue №1, 2019
Background: In the genetic and epidemiological study of multifactorial signs (diseases), an important task is to assess the genetic and genetic-environmental interactions associated with the studied phenotype. The aim ...
First report on a 20qh+ heteromorphism characterized by molecular cytogenetics as amplification of D20Z1 sequences
Volume 5, Issue №1, 2019
Background: Chromosomal heteromorphisms (CHMs) in human are still understudied. This is partially due to the fact that heterochromatic regions are not well documented in human genome browsers, even ...
Population genetic characteristics and genetic epidemiological research of candidate genes associations with multifactorial diseases
Volume 4, Issue №4, 2018
Background: When studying associations of candidate genes with multifactorial diseases, the formation of samples for research is important. One of the factors that should be considered in the formation ...
Study of IL5, IL1 and TNFα genes polymorphisms in the predisposition to chronic polypoid rhinosinusitis
Volume 4, Issue №4, 2018
Background: Chronic rhinosinusitis (CRS) is a common disease of the nose and paranasal sinuses with a protracted, relapsing course, whose treatment is often ineffective. Two forms of chronic ...
Association of the ITGB3 gene T1565C polymorphism with the development of atherosclerosis and in-stent restenosis in patients with stable coronary artery disease
Volume 4, Issue №4, 2018
Background: Today, percutaneous coronary intervention (PCI) is the most effective treatment of coronary artery disease (CAD). Despite all technical advances in stent designs and techniques, in-stent restenosis (ISR) remains ...
MOLECULAR-GENETIC DETERMINANTS OF INFERTILITY IN GENITAL ENDOMETRYOSIS
Volume 4, Issue №3, 2018
Background: Genital endometriosis is an urgent problem of modern medicine. It is one of the hard-to-explain diseases and is the cause of reproductive health disorders, a decline in the ...
EVOLUTIONARY-GENETIC ANALYSIS OF THE ROLE OF REGULATORY REGIONS IN CORO2A GENE IN THE DEVELOPMENT OF HEREDITARY PREDISPOSITION TO PREECLAMPSIA IN RUSSIAN AND YAKUT ETHNIC GROUPS
Volume 4, Issue №3, 2018
Background: Preeclampsia (PE) is one of the most serious pregnancy complications and is the leading cause of maternal and perinatal morbidity and mortality, because there are currently no prognostic ...
MOLECULAR-GENETIC ANALYSIS OF ASSOCIATIONS OF POLYMORPHOUS GENES COMBINATIONS OF THE XENOBIOTICS BIOTRANSFORMATION WITH THE ISOLATED VENTRICULAR SEPTAL DEFECT DEVELOPMENT IN THE KRASNODAR TERRITORY
Volume 4, Issue №3, 2018
Background: The study of the involvement of polymorphisms of candidate genes of the biotransformation system of xenobiotics in the formation of congenital malformations in children is one of the ...
EXPRESSION OF TOLL-LIKE RECEPTORS IN THE FEMALE REPRODUCTIVE TRACT AND ITS HORMONE REGULATION (REVIEW)
Volume 4, Issue №3, 2018
Background: Toll-like receptors (TLR) are the main receptors of the innate immune system, recognizing ligands of bacteria, viruses, fungi and protozoa and inducing immune response. However, complex ...
SELECTION OF POLYMORPHIC LOCI FOR ASSOCIATION ANALYSIS IN GENETIC-EPIDEMIOLOGICAL STUDIES
Volume 4, Issue №2, 2018
Background. The study of the role of hereditary factors in the formation of multifactorial signs is relevant, and in relation to multifactorial diseases, these studies are important for ...
POLYMORPHISM OF IL10, CTLA4 GENES AND PREDISPOSITION TO RHEUMATOID ARTHRITIS
Volume 4, Issue №2, 2018
Background. Rheumatoid arthritis (RA) is a systemic autoimmune disease, accompanied by chronic inflammation of the joints synovial membrane and a wide spectrum of extra-articular manifestations. Today, the problem of ...
MOLECULAR AND GENETIC CHARACTERISTICS OF PATIENTS WITH HYPERPLASIA AND ENDOMETRIC POLYPS
Volume 4, Issue №2, 2018
Background. Hyperplastic processes of the endometrium (GGE) are among the most frequent gynecological diseases, leading to a loss of reproductive function and a decrease in the quality of life ...
BIOMARKERS FOR CHILDHOOD NONMALIGNANT BRAIN DISEASES ASSOCAITED WITH CHROMOSOME INSTABILITY
Volume 4, Issue №2, 2018
Background. Over the past ten years, there has been provided a sufficient amount of data demonstrating that chromosome instability is not limited to being a molecular and cellular mechanism ...
