Significance of ß2-adrenoreeptor gene polymorphism molecular genetic mechanisms of formation of bronchial asthma

Author(s):  
Ye. Stepanova ◽  
◽  
I. Kolpakov ◽  
V. Vdovenko ◽  
V. Zigalo ◽  
...  

Objective: to determine the influence of hereditary predisposition, polymorphism of GSTT1, GSTM1, GSTP1 genes and environmental factors on the development of bronchial asthma in children – residents of radioactively contaminated areas. Materials and methods. School-age children-residents of radioactively contaminated areas with bronchial asthma, and those without clinical signs of respiratory pathology were examined. Genetic, medical, biological and social risk factors were determined based on the study of anamnestic data and medical records. Ventilation lung capacity was assessed by the method of computer spirometry. Molecular genetic studies were carried out using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) for further analysis. Results. Molecular genetic studies of the distribution of genotypes and frequencies of polymorphic variants of the genes GSTT1, GSTM1, GSTP1 were performed in children living under long-term intake of 137Cs by food chains. It was found that in children with BA the tendency to frequency of the deletion variant of the GSTT1 and GSTM1 genes in comparison with children without bronchial and pulmonary pathology was increased. The study of distributing the GSTP1 A313G gene polymorphic variants revealed in children with BA a significant increase in the frequency of AG-genotype, compared with the data of reference group. Adverse factors that increase the risk of developing bronchoobstructive disorders and the probability of their implementation in the form of bronchial asthma in children residents of RCA have been identified. It is established that among them the leading role is played by hereditary predisposition to this disease. On the part of the child, such negative factors were unfavorable conditions of fetal development, the presence of signs of exudative-catarrhal diathesis, manifestations of allergies and frequent respiratory diseases from the first months of life. It was found that the risk of developing BA was significantly increased in children with the GSTT1 and GSTM1 gene deletion genotypes; an increased risk of developing BA in children with a combination of the GSTP1 A313G gene polymorphism with deletion polymorphism of the GSTT1 or GSTM1 gene was determined. Сonclusion. Оne of the leading mechanisms, due to which there is a realization of hereditary predisposition to bronchial asthma in children living under constant intake of radionuclides with a long half-life, is the polymorphism of certain glutathione-S-transferase genes, namely, GSTT1, GSTM1 and A313G gene deletion polymorphism and GSTP1 gene polymorphism. Key words: children, radioactively contaminated areas, risk factors, bronchial asthma, glutathione-S-transferase gene polymorphism.


2019 ◽  
Vol 91 (3) ◽  
pp. 27-30
Author(s):  
A B Averyanov ◽  
I I Chercashina ◽  
S Yu Nikulina ◽  
V N Maksimov ◽  
V A Shestovitskiy

Aim: to study the association of mononucleotide polymorphism rs6737848 SOCS5 gene with the risk of development of allergic bronchial asthma. Material and methods. Totally 59 patients studied (19 males, 40 females) with allergic bronchial asthma and 50 healthy people (29 males, 21 females) of controls. All patients underwent clinical and instrumental and laboratory investigations in KICH №20 (Krasnoyarsk city) and molecular-genetic investigation of DNA in the Russia-Italian laboratory “MAGI” (Krasnoyarsk city) and Institution of Internal and Preventive Medicine (Novosibirsk city). Statistics included standard programs: Statistica for Windows 7.0. Results. The results of the study showed statistical predominance of prevalent genotype СС of SOCS5 gene in allergic bronchial asthma patients, comparing to control group. Conclusion. Homozygous genotype of СС gene of SOCS5 is a risk factor for allergic bronchial asthma.


2019 ◽  
Vol 23 (3) ◽  
pp. 343-354
Author(s):  
A. V. Makarova ◽  
O. V. Mitrofanova ◽  
A. B. Vakhrameev ◽  
N. V. Dementeva

The color of plumage in birds is an important feature, often determining descent to a particular species or breed. It serves as a key factor in the interaction of birds with each other due to their well-developed visual perception of the surrounding world. In poultry including chickens, the color of the plumage can be treated as a genetic marker, useful for identifying breeds, populations and breeding groups with their specific traits. The origin of diverse color plumage is the result of two interrelated physical processes, chemical and optical, due to which pigment and structural colors in the color are formed. The pigment melanin, which is presented in two forms, eumelanin and pheomelanin, is widely spread in birds. The basis for the formation of melanin is the aromatic amino acid tyrosine. The process of melano-genesis involves many loci, part of the complex expression of plumage color genes. In birds, the solid black color locus encodes the melanocortin 1 receptor (MC1R), mutations in which lead to a change in receptor activation and form different variants of the E locus. Using the GWAS analysis, possible genes affecting the formation of color in chickens were detected. The biosynthesis and types of melanin are affected by the activity of the enzyme tyrosine, and mutations in the tyrosinase gene (TYR) cause albinism in different species. The formation mechanism of brown, silver, gold, lavender and a number of other shades is determined by the influence on the work of the MC1R genes and TYR specific modifier genes. Thus, locus I currently associated with the PMEL17 gene inhibits the expression of eumelanin, and the MLPH gene affects tyrosinase function. Research on the mechanisms of formation of the secondary coloring of plumage in chickens is being actively conducted nowadays. The formation of a marble feather pattern is associated with the mutation of the endothelin B2 receptor (EDNRB2), in the coding part of the gene of which a polymorphism is found associated with the mo locus. The molecular base that causes the feather banding (locus B and autosomal recessive banding) is identified. Today, only some genes that determine the color of the plumage of chickens are studied and described. Different genes can produce similar plumage patterns, and different phenotypes can be determined by the polymorphism of a single gene. Using molecular methods, you can more accurately identify these differences. This overview shows the nature of melanin coloration in birds using the example of chickens of various breeds and also attempts to systematize knowledge about the molecular-genetic mechanisms of the appearance of various types of coloration.


2018 ◽  
pp. 91-93
Author(s):  
N.A. Solovyova ◽  
N.I. Pavlova ◽  
Kh.A. Kurtanov ◽  
M.A. Varlamova

2021 ◽  
pp. 43-54
Author(s):  
Antonina G. Baykova ◽  
Marina Yuryevna Vostroknutova ◽  
Natalia A. Ostryakova ◽  
Tatyana Mikhailovna Kiryushina

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.


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