Objective: to identify associations between clinico-morphological and molecular-genetic markers in skin biopsy on the basis of a complex analysis.Material and methods. Skin punch-biopsies with a diameter from 1 till 4 mm were used as a material for research. To assess the morphological charcateristis of the skin, the histological analysis was carried out; to assess the level of gene expression, real time PCR with reverse transcription was performed.Results. It has been found that the presence of morphological alterations in the skin of patients with chronic dermatosis is associated with the levels of normalized expression of СOL1A1 gene less than 100 % and/or gene COL1A2 gene less than 200 % and/or gene LOX less than 50 %. Conclusion. Real time PCR with reverse transcription can be used for objective assessment of the degree of skin alteration in patients with chronic dermatosis.
Белорусская медицинская академия последипломного образования, Минск, Беларусь Введение. Взаимосвязь между структурными изменениями кожи и уровнем активности генов, контролирующих синтез коллагена и эластина, у пациентов с хроническими дерматозами не изучена. Цель исследования. На основании комплексного анализа установить ассоциации между клинико-морфологическими и молекулярно-генетическими маркерами в биоптатах кожи. Материал и методы. В качестве материала для исследования использовали панч-биопсии кожи диаметром от 1 до 4 мм. Для оценки морфологических характеристик кожи проводили гистологическое исследование; для оценки уровня экспрессии генов-ПЦР в режиме реального времени с обратной транскрипцией. Результаты. Установлено, что наличие морфологических изменений в коже пациентов с хроническими дерматозами ассоциировано с уровнями нормализованной экспрессии гена СOL1A1 менее 100% и/или гена COL1A2 менее 200% и/или гена LOX менее 50%. Выводы. Метод ПЦР-РВ можно использовать для объективной оценки степени изменений в коже у пациентов с хроническими дерматозами. Ключевые слова: хронический дерматоз, морфотип кожи, морфологическая характеристика, гены. Material and methods. Skin punch-biopsies with the diameter from 1 to 4 mm were used as research material. Histological analysis was carried out for morphological features estimation; real-time PCR with reverse transcription was performed for evaluation of the gene expression level. Results. Morphological alterations in the skin of patients with chronic dermatosis are associated with the level of normalized expression of genes: gene СOL1A1 less than 100% and/or gene COL1A2 less than 200% and/or gene LOX less than 50%. Conclusions. Real-time PCR with reverse transcription can be used for objective estimation of the degree of skin alterations in patients with chronic dermatosis.
Objective: to identify the molecular genetic criteria of the risk of tension-type headache and migraine chronization development.Materials and methods. The detection of the results for the determination of allelic variants was carried out by means of horizontal electrophoresis using a molecular weight marker. The determination of the genotypes of the polymorphic variants of genes was carried out using high resolution melting PCR analysis.Results. Based on the performed molecular genetic studies, it has been established that the statistically significant (p < 0.05) risk factors of tension-type headache chronization are: the identification of the A-allele and AA-genotype of the DBH3 polymorphism of the dopamine-beta-hydroxylase gene DBH, as well as the identification of the G-allele and the GG-genotype of the Intron3SNP polymorphism of the preprotachykinin gene TAC1. It has been found that the statistically significant (p < 0.05) risk factors of migraine chronization are: the identification of the A-allele, GA- and AA-genotypes of the G29A polymorphism of the serotonin transporter gene SLC6A4, as well as the identification of the G-allele and the GG-genotype of the rs7793277 polymorphism of the preprotachykinin gene TAC1.Conclusion. The detection of these polymorphisms of the dopamine and preprotachykinin genes in the blood serum increases the risk of tension headache chronization by 1.395–1.991 times; the risk of migraine chronization by 1.235–1.395 times.
It has been established recently that both genes and the environment contribute to the risk of suicide. In this case, a combination of genes predisposing to certain qualities is of paramount importance. In the article, the authors provide an analytical review of literature devoted to the study of the genetic aspects of suicidality.
Psychogenetics studies the interaction of heredity and environment factors in the formation of individual differences in psychological and psychophysiological characteristics. The question of what influences mental development to a greater extent -heredity or environment -has caused numerous controversies and clashes of opinions in the history of "human history". The authors of the article pay special attention to the role of genetic factors in the formation of intelligence, temperament, a number of psychophysiological functions, the study of genotype-environmental relationships, as well as the relative role of heredity and environment in the formation of behavioral reactions.
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