Genetics
Expression of stem cell markers in meningioma among Sudanese patients
Volume 8, Issue №1, 2022
Background: Meningioma is the second most common primary intracranial tumor of the central nervous system, surgical total excision of meningioma offers a better survival to patients; however, a ...
Studying the role of interlocus interactions of folate cycle genes and matrix metalloproteinases in the formation of fetal growth retardation
Volume 8, Issue №1, 2022
Background: Fetal growth retardation (FGR) is one of the most common pregnancy complications that can adversely affect the short- and long-term health of newborns. The search for maternal polymorphisms ...
Analysis of the level of population endogamia as the basis of population-genetic and medical-genetic studies
Volume 7, Issue №4, 2021
Background: When conducting population-genetic and genetic-epidemiological studies, the endogamy index should be taken into account to assess the level of the elementary population, characteristics of the migration ...
Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)
Volume 7, Issue №4, 2021
Background: In reviewed literature, several patients with duplication or partial trisomy of the 6p region have been described. Most of these cases are associated with a partial monosomy ...
Ovarian cancer as part of hereditary cancer syndromes (review)
Volume 7, Issue №4, 2021
Background: Hereditary forms of ovarian cancer (OC) account for more than one fifth of cases of malignant neoplasms of this localization. The discovery of new molecular genetic predictors of ...
Interrelation of IL1B and IL6 genes polymorphism with blood eosinophilia and histological picture of polyps in patients with chronic polypous rhinosinusitis
Volume 7, Issue №4, 2021
Background: The problem of chronic polyposis rhinosinusitis is one of the most common diseases in modern otorhinolaryngology with an etiopathogenesis that is not fully understood. A widely studied theory ...
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 ...
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 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 ...
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 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 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 ...
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 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) ...
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 ...
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 ...
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 ...
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 ...
