scholarly journals Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne

2021 ◽  
Vol 11 (3) ◽  
pp. 275-280
Author(s):  
Alexander G. Rumyantsev ◽  
Olga M. Dеmina
Keyword(s):  
Molecular Genetic ◽  
Hair Follicles ◽  
Genetic Diagnostics ◽  
Control Group ◽  
Severe Acne ◽  
High Throughput Dna Sequencing ◽  
Molecular Genetic Diagnostics ◽  
Gene 4

Background: Acne is a multifactorial disease, in the pathogenesis of which one of the leading factors is the excessive effect of androgens on the hair follicles (HFs) and sebaceous glands (SGs), along with hypersecretion of sebum, pathological follicular hyperkeratosis and an inflammatory response. The search for genotypic markers in patients with varying severity of acne is a difficult task due to the multifactorial pathogenesis and the role of trigger factors in the formation of acne. The aim of this study was to determine SNPs within 3 genes involved in steroidogenesis (MVK, ARPC1B, and CA2) in patients with severe acne. Methods and Results: The study included 70 patients (42 men and 28 women) aged between 15 and 46 years (the median age - 22.1 years). The main group (MG) included 50 patients (29 men and 21 women) with severe acne. The control group (CG) consisted of 20 apparently healthy individuals (13 men and 7 women). Molecular-genetic diagnostics was carried out by the method of high-throughput DNA sequencing (next-generation sequencing). Our study showed that severe acne is associated with 12 polymorphic loci of the MVK gene (4 SNPs in exons and 8 SNPs in introns), 7 SNPs of the ARPC1B gene (2 SNPs in exons and 5 SNPs in introns), and 9 SNPs of the CA2 gene (3 SNPs in exons and 6 SNPs in introns). Conclusion: The revealed features of the SNPs within the MVK, ARPC1B, and CA2 genes in patients with severe acne probably indicate a hereditary determination of steroidogenesis in acne.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

scholarly journals Alleles Frequency and Polymorphic Genes Genotypes Associated with Alcoholism in Kazakh Population

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Svetlana Kaliullaevna Sakhanova ◽  
Gulnara Salavatovna Svyatova ◽  
Valery Petrovich Pavlenko ◽  
Akmaral Adietovna Ramazanova ◽  
Stanislav Vladimirovich Zaynullin ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Control Group ◽  
Asian Populations ◽  
Kazakh Population ◽  
Increased Risk ◽  
Polymorphic Variants ◽  
Molecular Genetic Diagnostics ◽  
Aldh2 Gene ◽  
Adh1b Gene

Background: There is a category of people with a congenial predisposition to alcohol abuse among the total population. The identification of such persons by molecular genetic diagnostics and the implementation of appropriate preventive measures can significantly reduce the incidence of alcoholism. Objectives: This research aimed to study the genetic foundations of alcohol dependence development in Kazakhs based on the analysis of population frequencies of polymorphic variants of predisposition to alcoholism genes. Materials and Methods: The material for the research was the DNA recovered from the peripheral blood of the recruited control group population, which was represented by 1,800 conditionally healthy individuals of Kazakh nationality. Isolated DNA samples were genotyped by PCR. Conclusions: Kazakhs take an intermediate position between the previously studied European and Asian populations by allele frequencies of nine polymorphic variants of ADH1B (rs2066701, rs1789891), ADH1C (rs1693425, rs698), HTR2C (rs6318), ALDH2 (rs671), CADM2 (rs9841829), KLB (rs11940694), DRD2 (rs1076560) genes. Possible markers of an increased risk of alcoholism development in Kazakhs are G alleles of polymorphic loci rs2066701 of the ADH1B gene and rs671 of the ALDH2 gene, and the protective effect is possible in the presence of A alleles rs2066701 of the ADH1B gene and rs671 of the ALDH2 gene.

scholarly journals Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

2011 ◽  
Vol 4 (2) ◽  
pp. 110-122 ◽  
Author(s):  
Benjamin Meder ◽  
Jan Haas ◽  
Andreas Keller ◽  
Christiane Heid ◽  
Steffen Just ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Molecular Genetic Diagnostics ◽  
Generation Sequencing

Phenotypes of professional bronchial asthma from the standpoint of spirometry

2021 ◽  
pp. 43-54
Author(s):  
Antonina G. Baykova ◽  
Marina Yuryevna Vostroknutova ◽  
Natalia A. Ostryakova ◽  
Tatyana Mikhailovna Kiryushina
Keyword(s):  
Comparative Analysis ◽  
Bronchial Asthma ◽  
Clinical Stage ◽  
Molecular Genetic ◽  
Control Group ◽  
Forced Exhalation ◽  
Choice Of Treatment ◽  
Genetic Examination

The aim of the study was to conduct a comparative analysis of spirometric indicators of respiration in various phenotypes of occupational bronchial asthma. Materials and methods. At the clinical stage of the work, a comprehensive clinical, radiological, spirographic, echocardiographic, immunological and molecular genetic examination of 170 patients of the main groups and 50 individuals of the control group was carried out. The results of the study. Dynamic determination of the speed indicators of forced exhalation in various phenotypes of occupational bronchial asthma can improve the diagnosis of obstructive disorders in this pathology, optimize the choice of treatment tactics, and predict the course of this pathology.

METHODS OF MOLECULAR GENETIC DIAGNOSTICS IN THE SYSTEM OF EPIDEMIOLOGICAL SURVEILLANCE IN THE HOSPITAL

2018 ◽  
Vol 13 (4) ◽  
pp. 96-99
Author(s):  
O.A. ORLOVA ◽  
M.N. ZAMYATIN ◽  
N.A. UMZUNOVA ◽  
N.N. LASHENKOVA ◽  
V.G. AKIMKIN ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Epidemiological Surveillance ◽  
Genetic Diagnostics ◽  
Molecular Genetic Diagnostics

scholarly journals Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias

2015 ◽  
Vol 116 (08) ◽  
pp. 465-468
Author(s):  
L. Kotysova ◽  
S. Mattosova ◽  
J. Chandoga
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Skeletal Dysplasias ◽  
Molecular Genetic Diagnostics

Correction of Psychological Status by Family Focused Technologies

2016 ◽  
pp. 129-131
Author(s):  
Serhii Vdovychenko
Keyword(s):  
Traditional Approach ◽  
Married Couple ◽  
Psychological Status ◽  
Control Group ◽  
Premature Births ◽  
The Family ◽  
Risk Patients ◽  
Individual Preparation

The objective: to show a role of the family focused technologies in correction of psychological status and depression of frequency of pathology of pregnancy at women of high obstetric risk. Patients and methods: for determination of efficiency of prophylaxis of pathology of pregnancy on the basis of use of the family focused technologies complex clinical-psychological and laboratory and tool examination of 300 women with factors of obstetric risk which were divided into two groups was conducted. In the main group – 182 women with motivation on partner labors to which provided training on system of individual preparation of married couple to labors. The control group consisted of 118 women with a traditional approach to pain management that have not been prenatal training. Results. Use of the family focused technologies during pregnancy allows correction of psyhological status and to reduce significantly the frequency of the main complications of pregnancy, especially not incubation and premature births. Conclusion. In our opinion, the technique is simple, available and can widely be used in practical health care at women with high obstetric risk.

scholarly journals Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

2014 ◽  
Vol 33 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Ivana Novaković ◽  
Nela Maksimović ◽  
Aleksandra Pavlović ◽  
Milena Žarković ◽  
Branislav Rovčanin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Single Gene ◽  
Molecular Genetic ◽  
Drug Efficacy ◽  
Genetic Diagnostics ◽  
Molecular Genetic Testing ◽  
Main Method ◽  
Molecular Genetic Diagnostics ◽  
Modern Medical Practice

Summary Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.

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