Genetics
Chromosome 18p deletion syndrome (18p-) in children: the value of cytogenetic and molecular cytogenetic diagnosis
Volume 7, Issue №3, 2021
Background: Chromosome 18p deletion syndrome (18p-) is associated with a loss of chromosomal material of the short arm (partial monosomy); however, the whole short arm is lost in the ...
Integrated in-depth bioinformatic analysis suggests RELCH/KIAA1468, LINC02341, and AKAP11 as candidate genes for ages at menarche and menopause
Volume 7, Issue №3, 2021
Background: Polymorphisms of the TNFRSF11A and TNFSF11 genes were reported for their association with age at menarche (AAM) and age at natural menopause (ANM). However, the biological mechanisms underlying ...
The relationship between polymorphism rs12449964 of the phosphatidylethanolamine-N-methyltransferase gene and hypertriglyceridemia and obesity in patients with type 2 diabetes
Volume 7, Issue №3, 2021
Background: Phosphatidylethanolamine N-methyltransferase (PEMT) is the enzyme of lipid metabolism that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in a series of three methylation reactions. Low activity of ...
About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans
Volume 7, Issue №3, 2021
Background: Variants in size of the acrocentric short arms (acro-ps) are normally not reported and considered as chromosomal heteromorphisms (CHMs) without any influence on the carrier’s phenotype. However, ...
The association study of polymorphic variants of hypothalamic-pituitary-adrenal system genes (AVPR1B, OXTR) and aggressive behavior manifestation: a focus on social environment
Volume 7, Issue №3, 2021
Background: Aggressive behavior (AB) represents an important social problem, which results in significant costs for the society. A significant role in developing aggression is suggested to be mediated ...
Association of VEGFA, factor V and prothrombin gene polymorphisms with early pregnancy loss
Volume 7, Issue №2, 2021
Background: Many studies conducted to assess the associations between the gene polymorphisms of factor V, prothrombin, and vascular endothelial growth factor gene A and recurrent early pregnancy loss (REPL) ...
Polymorphism of genes associated with the age at menarche and the risk of complications of pregnancy in women in the Central Black Earth Region of Russia
Volume 7, Issue №2, 2021
Background: The most common complications of pregnancy associated with metabolic and hemodynamic disorders in the mother-placenta-fetus system are placental insufficiency and preeclampsia. Preeclampsia is one of the leading ...
Association of polymorphism of genes STAT3, IL10 and IL12B with a viral load in women with human papillomavirus
Volume 7, Issue №2, 2021
Background: HPV infection leads to an imbalance of pro- and anti-inflammatory cytokines, which contributes to the long-term persistence of the virus in infected cells. The aim of the study: To ...
Influence of some risk factors and rs1799930 polymorphism of the NAT2-590 G>A gene on the development of chronic pancreatitis
Volume 7, Issue №2, 2021
Background: Genetic and environmental factors are involved in the development of chronic pancreatitis. The aim of the study: To determine the influence of some risk factors and polymorphism rs1799930 NAT2-590 ...
Bioinformatic tools and internet resources for functional annotation of polymorphic loci detected by genome wide association studies of multifactorial diseases (review)
Volume 7, Issue №1, 2021
Background: Genome-wide association studies (GWAS) are a type of genetic research whose purpose is to analyze the associations between genomic variants and phenotypic traits in a population. Over ...
First molecular cytogenetic characterization of the MMT 060562 murine breast cancer cell line
Volume 7, Issue №1, 2021
Background: Murine cell lines are working horses applied as model systems in multiple research studies in many laboratories. Nonetheless, most of them are not well characterized at the ...
Associations of rs2305948 and rs1870377 polymorphic variants of the vascular endothelial growth factor receptor type 2 (KDR) gene with the risk of coronary heart disease
Volume 7, Issue №1, 2021
Background: According to statistics, the first place among the causes of death worldwide is occupied by cardiovascular diseases (CVD), of which a large proportion are cases of coronary ...
rs34845949 polymorphism of the SASH1 gene is associated with the risk of preeclampsia
Volume 7, Issue №1, 2021
Background: Preeclampsia (PE) is a multisystem pathological condition that occurs in the second half of pregnancy (after the 20th week), characterized by arterial hypertension in combination with proteinuria ...
Features of gene control of blood pressure in patients with hypertensive disorders during pregnancy
Volume 7, Issue №1, 2021
Background: Chronic arterial hypertension and preeclampsia are multifactorial pathologies, in the development of which many groups of genes are involved in combination with negative environmental influence. The aim of ...
An association study of three polymorphisms in the glutathione synthase (GSS) gene with the risk of ischemic stroke
Volume 6, Issue №4, 2020
Background: It is well known that gene polymorphisms of antioxidant defense enzymes contribute to the ischemic stroke (IS) predisposition and affect the severity of its manifestations. The aim of the ...
Allele distribution and haploblock structure of matrix metalloproteinase gene polymorphism in patients with H. pylori-negative gastric ulcer and duodenal ulcer
Volume 6, Issue №4, 2020
Background: One of the important tasks is to study the molecular genetic basis of gastric and duodenal ulcer. This pathology is quite widespread among the population and has an ...
Single nucleotide polymorphisms in genes encoding xenobiotic metabolizing enzymes are associated with predisposition to arterial hypertension
Volume 6, Issue №4, 2020
Background: Arterial hypertension (AH) is the most common disease of the cardiovascular system. Intracellular chemical and oxidative stress, which can be associated both with direct exposure to toxic ...
Bioinformatic analysis of microduplications at 5p15.33: identification of TPPP as a candidate gene for autism and intellectual disability
Volume 6, Issue №4, 2020
Background: Autism is a common psychiatric disorder in children. Since autism is a multifactorial disease, the genetic predisposition plays a significant role in the pathogenesis. However, numerous studies focused ...
Increased usage of Smartphones in Medicine, an opportunity for Medical Cytogenetics
Volume 6, Issue №4, 2020
Background: The progressive availability at a worldwide scale of smartphones with bigger computing power and equipped with high quality cameras advertise a better usage for this equipment by ...
Polymorphism of the VEGFA gene, smoking and coronary heart disease: the significance of gene-environmental interactions for disease susceptibility
Volume 6, Issue №3, 2020
Background: Coronary heart disease (CHD) is a common disease with a high mortality rate in Russia, so the problem of early prognosis and prevention of this disease is ...
