GENETIC FACTORS OF ALCOHOLIC PSYCHOSIS DEVELOPMENT

2021 ◽  
pp. 12-15
Author(s):  
Н.Ж. НУРМАНОВА ◽  
К.О. КЕНЖЕЕВА
Keyword(s):  
Dna Markers ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Ethanol Metabolism ◽  
Increased Risk ◽  
Genetic Level ◽  
Level 1 ◽  
Alcohol Psychosis ◽  
Biological Predisposition

Известно, что наследственную предрасположенность к алкоголизму на фенотипическом уровне можно изучать с помощью генетических маркеров, возможно отражающих их связь с заболеванием [2, 3]. Многие авторы говорят о существовании биологической предрасположенности к алкоголизму, закрепленной на генетическом уровне [1, 4, 5, 6], однако природа и механизмы наследования при алкогольных психозах до настоящего времени остаются неясными. Цель настоящей работы - поиск маркеров повышенного риска развития алкогольных психозов путем проведения молекулярно-генетического анализа ДНК-маркеров основных ферментов метаболизма этанола It is known that the hereditary predisposition to alcoholism at the phenotypic level can be studied with the help of genetic markers, possibly reflecting their connection with the disease [2, 3]. Many authors say that there is a biological predisposition to alcoholism, fixed at the genetic level [1, 4, 5, 6], However, the nature and mechanisms of inheritance in alcoholic psychoses are still unclear. The aim of this work is to search for markers of increased risk of alcohol psychosis by conducting molecular genetic analysis of DNA markers of the main enzymes of ethanol metabolism.

Molecular genetic pathways in Parkinson's disease: a review

2005 ◽  
Vol 109 (4) ◽  
pp. 355-364 ◽  
Author(s):  
Shushant Jain ◽  
Nicholas W. Wood ◽  
Daniel G. Healy
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Basis ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Mendelian Genetics ◽  
Susceptibility Factors ◽  
Increased Risk ◽  
Major Progress ◽  
Made In

Major progress has been made in the last decade in understanding the genetic basis of PD (Parkinson's disease) with five genes unequivocally associated with disease. As a result, multiple pathways have been implicated in the pathogenesis of PD, including proteasome impairment and mitochondrial dysfunction. Although Mendelian genetics has been successful in establishing a genetic predisposition for familial PD, this has not been reiterated in the sporadic form. In fact no genetic factors have been unequivocally associated with increased risk for sporadic PD. The difficulty in identifying susceptibility factors in PD has not only been because of numerous underpowered studies, but we have been unable to dissect out the genetic component in a multifactorial disease. This review aims to summarize the genetic findings within PD.

Role of genetic factors in the development of premenstrul syndrome

2018 ◽  
pp. 84-86
Author(s):  
L.V. Pakharenko ◽  
Keyword(s):  
Estrogen Receptor ◽  
Premenstrual Syndrome ◽  
Genetic Factors ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Modern Medicine ◽  
Molecular Genetic Analysis ◽  
Esr1 Gene ◽  
Pathological Variant

To identify risks of development of any disease is a priority of modern medicine. The article deals with ESR1 gene polymorphisms and its role in the development of premenstrual. The objective: of this study was to investigate the frequency of polymorphic variants of A-351G gene estrogen receptor ESR1 in patients with various forms of premenstrual syndrome. Materials and methods. Molecular genetic analysis of ESR1 gene polymorphism was determines in 50 women with premenstrual syndrome (25 women of them had edematous form of disease, 25 – neuropsychical one; 25 suffered from mild form, 25 – severe one). 25 women without diagnosis of premenstrual syndrome were examined as controls. Results. The study of A-351G polymorphism estrogen gene ESR1 demonstrated no statistically significant differences in the frequency of distribution of genotypes and alleles between women with premenstrual syndrome and without this pathology. However, the frequency of GG genotype in women with severe PMS was significantly higher in 8.0 times compared with healthy women (χ2=4.87; p=0.03) and in women with edematous form of PMS – in 7.0 times (χ2=3.72; p=0.05). Conclusion. Thus, a polymorphic variant of A-351G estrogen receptor gene ESR1 can be regarded as a marker for the development of premenstrual syndrome. Pathological variant GG genotype is significantly associated with the presence of edematous and severe forms of the disease. Key words: premenstrual syndrome, genetic factors, development.

Molecular genetic analysis of the polymorphism of repair genes of double-strand breaks DNA strand breaks and repair «inconsistencies» DNA in workers of hazardous industries

2019 ◽  
Vol 1 (7) ◽  
pp. 395-399
Author(s):  
Тatyana A. Andrushchenko ◽  
Sergey V. Goncharov ◽  
Viktor Е. Dosenko ◽  
Konstantin E. Ischeikin
Keyword(s):  
Dna Repair ◽  
Respiratory System ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Double Strand Breaks ◽  
Dna Repair Genes ◽  
Dna Breaks ◽  
Strand Breaks ◽  
Increased Risk ◽  
Repair Genes

Introduction. Presents results of a study of polymorphisms of repair genes of double-strand breaks DNA breaks: XRCC7 (rs7003908), ATM (rs664677), repair «inconsistencies» DNA MLH1 (rs1799977) in miners and workers of asbestos factories professionally due to broncho-pulmonary pathology. T e aim of the study was to research the frequency distribution of genotypes of DNA repair genes: XRCC7 (rs7003908), ATM (rs664677) and MLH1 (rs1799977) in workers of harmful and dangerous industries to identify markers of increased risk of bronchopulmonary pathology. Materials and methods. In 90 people with bronchopulmonary pathology and 124 respondents who worked in the same working conditions but had no history of diseases of the respiratory system, polymerase chain reaction in real time studied the polymorphism of DNA repair genes: XRCC7 (rs7003908), ATM (rs664677) and MLH1 (rs1799977). Results. It was found that the genotypes ATM×T/T and MLH1×A/G are associated with the risk of bronchopulmonary pathology. Genotypes that contribute to resistance to the development of respiratory system pathology were also established: ATM×A/A, ATM× A/T and MLH1×A/A. Conclusion. Genotypes associated with the risk of bronchopulmonary pathology were established: ATM×T/T (р≤0.01, χ2=6.61; OR=2.48; 95%CI: 1.16–5.31) and MLH1×A/G (p≤0.002, χ2=9.00; OR=2.32; 95%CI: 1.29–4.21). Also determined the genotypes that contribute to resistance to the development of diseases of the respiratory system: ATM×a/A (OR=0,83; 95%CI: 0,45–1,54), ATM×A/T (OR=0,67; 95% CI: 0,38–1,21) and MLH1× a/A (р≤0,003, χ2=8,73; OR=0,43; 95% CI: 0,24–0,79).

Analysis of polymorphic DNA markers as potential predictors of myocardial infarction taking into account age

Biomics ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 455-459
Author(s):  
Nasibullin T.R. ◽  
V.V. Erdman ◽  
Y.R. Timasheva ◽  
I.A. Tuktarova
Keyword(s):  
Myocardial Infarction ◽  
Dna Markers ◽  
Genetic Factors ◽  
Complex Interaction ◽  
Homogeneous Group ◽  
Control Group ◽  
Healthy Men ◽  
Polygenic Disease ◽  
Increased Risk

Myocardial infarction (MI) is a multifactorial polygenic disease. It develops because of the complex interaction between many environmental and genetic factors. In this investigation, we have studied associations of MI and rs1042034 (gene APOB), rs4420638 (gene APOC1) rs2070424 (gene SOD1) и rs662 (ген PON1) in an ethnically homogeneous group. The material for analysis was DNA samples of patients (365 men) with onset of MI at the age of 30 to 60 years and 292 essentially healthy men of the control group. The study revealed markers of increased risk of MI: SOD1*A/A, for men under 46 years of age (P=0.029, OR=1.96), APOC1*A/G (P=0.03, OR=2.01), for men over 48 years of age, and APOB*C/C (P=0.031OR=1.8).

The Epidemiology of the Genetic Liability for Schizophrenia

2000 ◽  
Vol 34 (1_suppl) ◽  
pp. A47-A55 ◽  
Author(s):  
Joachim Hallmayer
Keyword(s):  
Large Scale ◽  
Genetic Factors ◽  
Association Studies ◽  
Molecular Genetic ◽  
Positive Family History ◽  
Adoption Studies ◽  
Genetic Liability ◽  
Risk Increase ◽  
Increased Risk ◽  
Prevention Trials

Objective The low incidence of schizophrenia prohibits large scale prevention trials, and the question arises whether such studies become more feasible by taking into account genetic factors. The aim of the paper was to inform preventive endeavours with an account of the genetic background to schizophrenia. Method The family, twin and adoptive studies of schizophrenia are reviewed and recent molecular genetic data presented. Results Children of a parent diagnosed with schizophrenia have a ten-fold increased risk of developing the disorder. Twin and adoption studies strongly suggest the risk increase is mainly due to genetic factors. On an individual level, a positive family history is the strongest known risk factor for schizophrenia. For a prevention study, very large numbers of families have to be screened in order to reach a sufficient sample size. Conclusions One obvious way to increase the accuracy of predicting who is at high risk of developing schizophrenia would be to find specific mutations in the human genome. Attempts to isolate specific genes by means of linkage and association studies have been unsuccessful so far and, given the number of genes involved, it is extremely unlikely that the predictive value of individual genes will be high enough to warrant intervention. Genetic studies also suggest the genetic liability extends beyond the traditional clinical phenotypes. Prevention trials might become possible by adopting a broader approach.

Atrial natriuretic peptide gene variants and circulating levels: implications in cardiovascular diseases

2014 ◽  
Vol 127 (1) ◽  
pp. 1-13 ◽  
Author(s):  
Speranza Rubattu ◽  
Sebastiano Sciarretta ◽  
Massimo Volpe
Keyword(s):  
Cardiovascular Diseases ◽  
Atrial Natriuretic Peptide ◽  
Natriuretic Peptide ◽  
Cardiovascular Health ◽  
Cell Damage ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Gene Variants ◽  
Increased Risk ◽  
Atrial Natriuretic

ANP (atrial natriuretic peptide), discovered 30 years ago in rat cardiac atria, has been extensively investigated with regard to physiology, pathophysiology, cardiovascular disease therapeutics and molecular genetic aspects. Besides its diuretic, natriuretic and vasorelaxant effects, novel properties of this hormone have been described. Thus anti-hypertrophic, anti-fibrotic, anti-proliferative and anti-inflammatory actions suggest that ANP contributes not only to haemodynamic homoeostasis and adjustments, but has also a role in cardiovascular remodelling. Circulating ANP levels represent a valuable biomarker in cardiovascular diseases. ANP structure is highly conserved among species, indicating a key role in cardiovascular health. Thus an abnormal ANP structure may contribute to an increased risk of disease due to altered functions at either the vascular or cardiac level. Among others, the 2238T>C exon 3 variant has been associated with endothelial cell damage and dysfunction and with an increased risk of acute cardiovascular events, a frameshift mutation within exon 3 has been related to increased risk of atrial fibrillation, and ANP gene variants have been linked to increased risk of hypertension in different ethnic groups. On the other hand, the rs5068 variant, falling within the 3′ UTR and associated with higher circulating ANP levels, has been shown to have a beneficial cardioprotective and metabolic effect. Dissecting out the disease mechanisms dependent on specific ANP molecular variants may reveal information useful in the clinical setting for diagnostic, prognostic and therapeutic purposes. Furthermore, insights from molecular genetic analysis of ANP may well integrate advancing knowledge on the role of ANP as a significant biomarker in patients affected by cardiovascular diseases.

scholarly journals Species composition of green frogs (Pelophylax Esculentus Complex) of the Belgorod agglomeration based on DNA markers

2021 ◽  
Vol 30 ◽  
pp. 04008
Author(s):  
Eduard Snegin ◽  
Anatoliy Barkhatov ◽  
Anton Sychev ◽  
Elena Snegina
Keyword(s):  
Genetic Analysis ◽  
Species Composition ◽  
Serum Albumin ◽  
Dna Markers ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Albumin Gene ◽  
Intron 1 ◽  
Pelophylax Esculentus

On the basis of molecular genetic analysis of the intron-1 of the nuclear serum albumin gene (SAI-1) were identified 177 individuals of Pelophylax esculentus complex of 9 localities Belgorod. Two types of population systems R and RE were identified. Pure populations of L-type, E-type and LE-type as well as P. lessonae individuals were not identified.

Molecular Characterization and Genetic Diversity Study in F3 Population of Rice

2013 ◽  
Vol 20 (1-2) ◽  
pp. 1-8
Author(s):  
MM Rahman ◽  
L Rahman ◽  
SN Begum ◽  
F Nur
Keyword(s):  
Genetic Distance ◽  
Gene Diversity ◽  
Random Amplified Polymorphic Dna ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Polymorphic Loci ◽  
Rice Genotypes ◽  
High Level ◽  
Genetic Diversity Study ◽  
Diversity Study

Random Amplified Polymorphic DNA (RAPD) assay was initiated for molecular genetic analysis among 13 F3 rice lines and their parents. Four out of 15 decamer random primers were used to amplify genomic DNA and the primers yielded a total of 41 RAPD markers of which 37 were considered as polymorphic with a mean of 9.25 bands per primer. The percentage of polymorphic loci was 90.24. The highest percentage of polymorphic loci (14.63) and gene diversity (0.0714) was observed in 05-6 F3 line and the lowest polymorphic loci (0.00) and gene diversity (0.00) was found in 05-12 and 05-15 F3 lines. So, relatively high level of genetic variation was found in 05-6 F3 line and it was genetically more diverse compared to others. The average co-efficient of gene differentiation (GST) and gene flow (Nm) values across all the loci were 0.8689 and 0.0755, respectively. The UPGMA dendrogram based on the Nei’s genetic distance differentiated the rice genotypes into two main clusters: PNR-519, 05-19, 05-14, 05-12 and 05-17 grouped in cluster 1. On the other hand, Baradhan, 05-9, 05-13, 05-11, 05-5, 05-6, 05-1, 05-4, 05-15 and 05-25 were grouped in cluster 2. The highest genetic distance (0.586) was found between 05-4 and 05-17 F3 lines and they remain in different cluster.DOI: http://dx.doi.org/10.3329/pa.v20i1-2.16839 Progress. Agric. 20(1 & 2): 1 – 8, 2009

Diagnosis and Management of Cardiomyopathies – A Focus on Genetics, Cardiac Magnetic Resonance and Clinical Features

2011 ◽  
Vol 7 (3) ◽  
pp. 225
Author(s):  
Gianfranco Sinagra ◽  
Michele Moretti ◽  
Giancarlo Vitrella ◽  
Marco Merlo ◽  
Rossana Bussani ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Imaging Techniques ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Routine Clinical Practice ◽  
Clinical Approach ◽  
Diagnosis And Management ◽  
Made In

In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet included in routine clinical practice, mainly because of their elevated costs and execution time. A patient-based and patient-oriented clinical approach, coupled with new imaging techniques such as cardiac magnetic resonance, can be of great help in selecting patients for molecular genetic analysis and is crucial for a better characterisation of these diseases. This article will specifically address clinical, magnetic resonance and genetic aspects of the diagnosis and management of cardiomyopathies.

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