MOLECULAR GENETIC ASPECTS OF SUCCESSFUL PERFORMANCE IN CYCLIC SPORTS

2020 ◽  
Vol 8 (2) ◽  
pp. 67-79
Author(s):  
Sergei Melnov ◽  
Tatyana Lebed ◽  
Elena Komar
Keyword(s):  
Genetic Markers ◽  
Molecular Genetic ◽  
Control Group ◽  
Successful Performance ◽  
Development Patterns ◽  
Genetic Status ◽  
Polymerase Chain ◽  
Agt Gene ◽  
Initial Selection ◽  
Relative Similarity

The purpose of the study was a comparative analysis of the genetic status of rowing athletes and swimmers of high sports qualifications. Methods and organization of research. The cohort studies brought together a control group (215 people), a group of rowers (215 people) of high qualification (Candidates Masters of Sports - 54, Masters of Sports - 102, Masters of Sports International Class - 59); a group of swimmers (127) of high qualification (Candidates Masters of Sports - 114, Masters of Sports - 13). The typing of the polymorphism of the studied genes was carried out using the method of polymerase chain reaction (PCR) with subsequent processing of the amplification by restriction endonucleases (NlaIII, TaqI, MspI, BslI). The results of the study. We have substantiated the panel of genetic markers that determine successful performance in rowing, including the following polymorphic systems: I / D of the ACE gene, Met174Thr of the AGT gene, Ser482Gly of the PPARGC1A gene, + 294T / C of the PPARD gene, G2027C of the PPAPA gene, S / L of the 5HTT gene; T102C of the 5HT2A gene. Despite the relative similarity of requirements for successful performance in rowing and swimming, significant differences in the genetic status of successful athletes were revealed. Conclusion. Analysis of the expression of genetic markers, the number of which is constantly increasing, makes it possible to predict not only the development patterns of physical qualities of an athlete, but also to assess his training potential. It helps us to identify approaches to the development and correction of training programs for specific athletes based on their genetic status. Summarizing the results of the initial selection in the cyclic sports section, we can recommend the analysis of the following polymorphic markers: I / D gene ACE, Thr174Met gene AGT, G2528C gene PPARA, Gly482Ser gene PPARGC1A, + 294T / C gene PPARD, C102T gene 5HT2 L, 5HTA S gene 5HTT.

scholarly journals Association of the I/D polymorphism of angiotensinconverting enzyme gene with the development of essential hypertension

2019 ◽  
Vol 34 (3) ◽  
pp. 87-96
Author(s):  
O. S. Pavlova ◽  
S. E. Ogurtsova ◽  
M. M. Liventseva ◽  
T. H. Lakotko ◽  
I. Y. Korobko ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Molecular Genetic ◽  
Recessive Model ◽  
Control Group ◽  
Molecular Genetic Study ◽  
Ace Gene ◽  
Paternal Line ◽  
Male Patients ◽  
Polymerase Chain ◽  
The Impact

Objective. To determine the impact of the I/D polymorphism of the angiotensin-converting enzyme (ACE) gene on the development of essential hypertension, taking into account gender differences.Material and Methods. Clinical data were assessed and a molecular genetic study was performed in 602 people including 401 patients with essential hypertension and 201 individuals of the control group, representing the Belarusian ethnic group. Genotyping was performed using the method of polymerase chain reaction and restriction fragment length polymorphism.Results. The distribution of genotypes of the I/D polymorphism of the ACE gene did not differ between patients with hypertension and normotensive individuals: II, ID, and DD genotypes were detected in 100 (24.9%), 192 (47.9%), and 109 (27.2%) patients and in 52 (25.9%), 108 (53.7%), and 41 (20.4%) people of the comparison group, respectively. Differences were found between the distribution of DD genotype in men with hypertension and in the control group, where the frequencies were 28.4% and 17.3% (p  =  0.04), respectively, in contrast to no differences in women: 25.8% and 23.3% (p  =  0.64), respectively. Carrying the DD genotype in men compared with the ID and DD genotypes (recessive model) of the I/D polymorphism of the ACE gene increased the probability of developing essential hypertension by 1.9 times (OR   =   1.89; 95% CI  =  1.04-3.44). The analysis of the prevalence of risk factors depending on the I/D polymorphism of the ACE gene showed that male patients with the DD genotype more often had burdened heredity in regard to the development of premature cardiovascular diseases (23 patients (37.7%)) compared with the individuals with II and ID genotypes: 13 (21.7%) and 14 (14.9%) patients, respectively (χ2  =  1.16; p  =   0.005), and mainly through the paternal line.Conclusions. Development of essential hypertension is associated with the carriership of the mutant DD genotype of I/D polymorphism of the ACE gene in men. 

scholarly journals A study of new molecular genetic markers of sudden cardiac death identified in the analysis of the results of whole-exome sequencing

2020 ◽  
pp. 33-35
Author(s):  
А.А. Иванова ◽  
Е.С. Мельникова ◽  
А.А. Гуражева ◽  
С.К. Малютина ◽  
В.П. Новоселов ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Markers ◽  
Cardiac Death ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Molecular Genetic Markers ◽  
Whole Exome

Целью исследования является подтверждение ассоциации с внезапной сердечной смертью однонуклеотидных полиморфизмов rs77270326, rs34643859, выявленных в ходе собственного полноэкзомного секвенирования как возможных молекулярно-генетических маркеров внезапной сердечной смерти. В группе внезапной сердечной смерти (n=400, средний возраст умерших 53,2±8,7 года, доля мужчин - 70,9%, женщин - 29,1%) и контрольной группе (n=400, средний возраст 53,1±8,3 года, мужчины - 68,3 %, женщины - 31,7%) проведено генотипирование по выбранным полиморфизмам методом ПЦР-ПДРФ по авторским протоколам. По частотам генотипов и аллелей полиморфизма rs77270326 не найдено статистически значимых различий между группами (p>0,05). В группе женщин в возрасте до 50 лет выявлено статистически значимое уменьшение доли носительниц генотипа ТТ в группе внезапной сердечной смерти (32,3%) по сравнению с контрольной группой (60,0%) (ОШ=0,32, 95%ДИ 0,11-0,91, р=0,04). Таким образом, однонуклеотидный полиморфизм rs77270326 не ассоциирован с внезапной сердечной смертью. Для женщин младше 50 лет генотип ТТ полиморфизма rs34643859 ассоциирован с протективным эффектом в отношении внезапной сердечной смерти. The aim of the study is to confirm the association with sudden cardiac death of single-nucleotide polymorphisms rs77270326, rs34643859, identified during own whole-exome sequencing as possible molecular genetic markers of sudden cardiac death. In the group of sudden cardiac death (n = 400, the average age of the dead - 53.2 ± 8.7 years, the proportion of men - 70.9%, women - 29.1%) and the control group (n = 400, average age - 53 , 1 ± 8.3 years, men - 68.3%, women - 31.7%) genotyping of the selected polymorphisms was conducted by PCR-RFLP method according to the authors’ protocols. According to the frequencies of genotypes and alleles of rs77270326 polymorphism, no statistically significant differences were found between the groups (p>0.05). A group of women under the age of 50 revealed a statistically significant decrease in the proportion of carriers of the TT genotype in the group of sudden cardiac death (32.3%) compared with the control group (60.0%) (OR = 0.32, 95% CI 0, 11-0.91, p = 0.04). Thus, the rs77270326 is not associated with sudden cardiac death. For women under the age of 50, the TT genotype of rs34643859 polymorphism is associated with a protective effect against sudden cardiac death.

scholarly journals Association of spine deformation progression in children with idiopathic scoliosis and folate cycle gene polymorphism

2018 ◽  
Vol 6 (2) ◽  
pp. 5-11
Author(s):  
Alexandra N. Filippova ◽  
Alexey G. Baindurashvili ◽  
Marina V. Sogoyan ◽  
Sergey E. Khalchitsky ◽  
Dmitry N. Kokushin ◽  
...  
Keyword(s):  
General Population ◽  
Idiopathic Scoliosis ◽  
Molecular Genetic ◽  
Control Group ◽  
Healthy Children ◽  
Molecular Genetic Testing ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Folate Cycle ◽  
The Relationship

Background. One of the most common orthopedic pathologies in children aged 10–18 years is idiopathic scoliosis, which is diagnosed in 2%–3% of cases in the general population. Aim. To compare the distributions of the allele frequencies and folate cycle gene genotypes among the MTHFR 677 C>T (rs 1801133), MTHFR 1298 A>C (rs 1801131), MTR 2756 A>G (rs 1805087), and MTRR 66 A>G (rs 1801394) polymorphisms in patients with idiopathic scoliosis and in children without spinal deformity. To also analyze the relationship between the studied molecular-genetic markers and development of scoliosis. Materials and methods. Clinical and genetic examinations were performed in 48 children with idiopathic scoliosis and 32 healthy children. Molecular-genetic testing was performed by polymerase chain reaction. Results and discussion. We found that the percentage of carriers of pathological alleles and genotypes was higher in the children with idiopathic scoliosis than in the general population. The number of pathological alleles and genotypes associated with the MTHFR (A1289C) and MTRR genes was significantly higher in patients with idiopathic scoliosis than in the control group. Сonclusion. We found that the percentage of carriers of pathological alleles and genotypes was higher in children with idiopathic scoliosis than in the population.

scholarly journals DETERMINATION OF MOLECULAR GENETIC MARKERS IN PROGNOSIS OF THE EFFECTIVENESS OF TREATMENT OF MALIGNANT INTRACEREBRAL BRAIN TUMORS

2019 ◽  
Vol 4 ◽  
pp. 25-34
Author(s):  
Oleksandr Glavatskyi ◽  
Irina Vasileva ◽  
Olena Galanta ◽  
Hennadii Khmelnytskyi ◽  
Irina Shuba ◽  
...  
Keyword(s):  
Gene Expression ◽  
Polymerase Chain Reaction ◽  
Brain Tumors ◽  
Real Time ◽  
Genetic Markers ◽  
Predictive Value ◽  
Molecular Genetic ◽  
Chain Reaction ◽  
Mgmt Gene ◽  
Polymerase Chain

Intracerebral malignant brain tumors remain one of the most complex problems of neuro-oncology. Today, promising results of the use of targeted drugs have been received, which determine the important diagnostic and predictive value of molecular genetic markers of glial and metastatic brain tumors. Aim: The study of the prevalence of MGMT (O6-methylguanine-DNA methyltransferase) and PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene expression by real time polymerase chain reaction in tumor tissue of gliomas and brain metastases. Materials and methods: From thirty patients were received tumor material (29 cases of glioma III-IV degree of anaplasia and one case of metastatic brain lesion of adenocarcinoma). The normalized expression of MGMT and PTEN genes was determined by real-time polymerase chain reaction. Results: In all 30 (100 %) patients with tumor fragments, we determined normalized expression of MGMT and PTEN genes. In most cases, 53 % of the observations (16 out of 30 patients) showed a low normalized expression of MGMT gene (<40 c. u.) and a low normalized PTEN expression rate of 73 % (22 out of 30 patients) (<40 c. u.). The average expression level of the MGMT gene in the range from 40 to 100 c. u. (6/20 % of patients) was considered prognostic favourable for the response to temozolomide chemotherapy. Conclusions: The study of MGMT gene expression, a chemotherapy marker for temozolomide, indicates a trend toward correlation between expression levels and therapeutic efficacy. The study of the expression of the PTEN gene, the blocker of the PI3K / AKT signal pathway, indicates a different degree of expression of this enzyme in the tumour samples studied. The predictive value of the indicator for target therapy is appropriate in comparison with the EGFR mutation. Further profound analysis of the results is required with increasing number of sampling and observation period.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

A Study of the Efficiency of Modern Domestic Disinfectants in the System of TB Control Activities

2015 ◽  
Vol 2 (2) ◽  
pp. 26-31 ◽  
Author(s):  
A. Paliy ◽  
A. Zavgorodniy ◽  
B. Stegniy ◽  
A. Gerilovych
Keyword(s):  
Molecular Genetic ◽  
Critical Role ◽  
Bactericidal Effect ◽  
Chain Reaction ◽  
Tb Control ◽  
Source Of Infection ◽  
Polymerase Chain ◽  
And Control ◽  
Chemical Groups ◽  
Test Objects

Due to the absence of elaborated effi cient means for specifi c prevention of bovine tuberculosis, it is ex- tremely important to detect and eliminate the source of infection and to take veterinary and sanitary preven- tive measures. Here the critical role is attributed to disinfection, which breaks the epizootic chain due to the elimination of pathogenic microorganisms in the environment and involves the application of disinfectants of different chemical groups. Aim. To study the tuberculocidal properties of new disinfectants DZPT-2 and FAG against atypical mycobacteria Mycobacterium fortitum and a TB agent Mycobacterium bovis. Methods. The bacteriological and molecular-genetic methods were used. Results. It was determined that DZPT-2 prepara- tion has bactericidal effect on M. fortuitum when used in the concentration of 2.0 % of the active ingredient (AI) when exposed for 5–24 h, while disinfectant FAG has a bactericidal effect in the concentration of 2.0 % when exposed for 24 h. Disinfectant DZPT-2 in the concentration of 2.0 % of the AI, when exposed for 5–24 h, and FAG preparation in the concentration of 2.0 %, when exposed for 24 h, and with the norm of consump- tion rate of 1 cubic decimeter per 1 square meter disinfect the test-objects (batiste, wood, glazed tile, metal, glass), contaminated with the TB agent M. bovis. Conclusions. Disinfecting preparations of DZPT-2 in the concentration of 2.0 % of AI when exposed for 5 h and FAG in the concentration of 2.0 % when exposed for 24 h may be used in the complex of veterinary and sanitary measures to prevent and control TB of farm ani- mals. The possibility of using the polymerase chain reaction as an additional method of estimating tuberculo- cide activity of disinfectants was proven.

Molecular genetic markers for assessing individual sensitivity to lead

2019 ◽  
Author(s):  
Л.П. Кузьмина ◽  
◽  
А.Г. Хотулева ◽  
М.М. Коляскина ◽  
Л.М. Безрукавникова ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Molecular Genetic ◽  
Individual Sensitivity ◽  
Molecular Genetic Markers

Breeding study of sea buckthorn (Hippophae rhamnoides L.) in the Institute of Horticulture, NAAS оf Ukraine

2020 ◽  
pp. 37-49
Author(s):  
V.V. Moskalets ◽  
◽  
T.Z. Moskalets ◽  
I.V. Grynyk ◽  
O.A. Shevchuk ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Cell Biology ◽  
Molecular Genetic ◽  
The State ◽  
Sea Buckthorn ◽  
National Academy Of Sciences ◽  
Scientific Cooperation ◽  
State Register ◽  
Academy Of Sciences

The authors present the results of the sea buckthorn breeding at the Institute of Horticulture (NAAS). The stages of the work have been analyzed – from studying and selecting the initial material in the conditions of the Polissya, Polissya-Lisosteppe and Lisosteppe ecotopes (2012-2016) to the successful targeted introduction to the Northern part of the Lisosteppe (2017-2019) and new forms have been characterized according to the traits valuable for economy and molec-ular genetic markers. The new forms of the researched crop taking into consideration the high indices of their productiv-ity,adaptivity to the unfavourable abiotic and biotic environmental factors and consumption quality of fruits for pro-cessing and making functionary products were entered officially into Genetic Fund of the Plants of Ukraine as con-firmed by the certificates of copyright and developed genetic passports. The list of these genotypes includes 1-15-1 (Nos-ivchanka, UA3700073), 1-15-8S (Mitsna, UA3700079), make form 1-15-6Ch (Aboryhen 6/11, UA3700080), 1-15-9 Ka-rotynna, UA3700082), 1-15-3 (Pamiatka, UA3700076), 1-15-8V (Soniachne siayvo, UA3700075), 1-15-11 (Lymonna, UA3700072), 2-15-73 (Morkviana, UA3700077), 1-15-5 (Adaptyvna, UA3700078), 1-15-8B (Osoblyva, UA3700083), 1-15-6 (Apelsynova, UA3700084) and forms 6A/11 (UA3700081), 1-15-5a (Sribnolysta 5a, UA3700074). The possibility of using 5 DNA markers to characterize genotypes of sea buckthorn bymeans of the molecular genetic markers was tested and evaluated in the framework of the scientific cooperation with the Institute of Cell Biology and Genetic Engineering of the National Academy of Sciences of Ukraine. It should be noted that the most polymorphic markers were HrMS025 and HrMS026. However, the marker HrMS014 was monomorphic, but appeared in all the samples, so it can be used as a reference. The best forms of sea buckthorn Adaptyvna (certificate №190899) and Osoblyva (certificate №190900) were included into the State Register of Plant Varieties Suitable for dissemination in Ukraine, and the cultivars of the univer-sal use Nadiina (applications №18299010), Oliana (applications №18299009) and Morkviana (applications № 20299001) and cv pollinator Obrii (applications №18299008) undergo the State strain test. The attention is concentrat-ed on the promising directions of the new sea buckthorn genotypes for the prior breeding and genetic investigations at the Institute of Horticulture (NAAS) and its network.

Sign in / Sign up

Export Citation Format

Share Document