Частота носительства в российской популяции мутаций в генах GJB2 и GALT, ассоциированных с развитием нейросенсорной тугоухости и галактоземии Carrier frequency of GJB2 and GALT mutations associated with sensorineural hearing loss and galactosemia in the Russian population Статья продолжает цикл работ, посвященных определению частоты носительства в российской популяции мутаций, ассоциированных с развитием распространенных моногенных заболеваний. Целью исследования было установление частоты распространенных в российской популяции мутаций в генах GJB2 и GALT у доноров первичной кроводачи. При генотипировании 1000 доноров первичной кроводачи, идентифицирующих себя как русских и постоянно проживающих на территории Российской Федерации, обнаружены 37 носителей мутаций в гене GJB2, ассоциированных с развитием нейросенсорной тугоухости (частота в выборке составила 3,7 %, или 1 : 27), и 6 носителей мутаций в гене GALT, ассоциированных с развитием галактоземии (частота в выборке -0,6 %, или 1 : 167). Выявлен 1 случай сочетанного носительства мутаций, и, таким образом, всего обнаружены 42 носителя мутаций в генах GJB2 и GALT (частота в выборке -4,2 %, или 1 : 24). This article continues a series of works estimating carrier frequencies of mutations associated with the development of common monogenic disorders in the Russian population. The study aimed to establish the frequency of GJB2 and GALT mutations in first-time blood donors. Genotyping of 1000 first-time blood donors who identify themselves as Russians and permanently reside in the Russian Federation detected 37 carriers of GJB2 mutations associated with sensorineural hearing loss (carrier frequency in the sample was 3.7 %, or 1 : 27) and 6 carriers of GALT mutations associated with galactosemia (carrier frequency in the sample was 0.6 %, or 1 : 167). In one carrier, concurrent mutations were detected; thus, in total 42 carriers of GJB2 and GALT mutations were detected (carrier frequency in the sample was 4.2 %, or 1 : 24).
The explanation of fatigue as a spatially non-uniform kinetic imprint due to evolution of the local threshold field distribution function has been proposed by us recently. In this paper we propose a new switching current analysis which allows to extract the distribution function from the data of conventional hysteresis loop measurements. Domain kinetics in slow-increasing field in spatially inhomogeneous ferroelectric was investigated by computer simulation. Domain arising and growth were considered under assumption that the threshold field for appearance of isolated nuclei is essentially higher than for nuclei at the domain wall. The obtained approach essentially differs from Preisach one. The proposed method has been applied for analysis of the switching current data measured during fatigue cycling in PZT and PLZT thin films. The fitting formula for dependence of switching charge and current maximum on the cycle number has been proposed and successively used for experimental data. The proposed method can accelerate the fatigue testing.
The results of research on emotional intelligence and personal characteristics of teenagers under suspended sentence are considered in the article. The purpose of research: studying of emotional intelligence level and comparison of aggression and anxiety between teenagers under suspended sentence and law-abiding teenagers. Methods of research: Bass-Darki test (BDI)-for evaluation of aggression and animosity; questionnaire of Spielberger-Khanin (STАI) for evaluation of situational and personal anxiety; EIS test (Hall)-for studying emotional intelligence level. It is shown, that the comparative analysis has revealed authentic distinctions of all parameters using EIS technique, parameters of situational and personal anxiety using STAI technique, indirect aggression and feeling of fault using BDI questionnaire among teenagers under suspended sentence and law-abiding teenagers. The correlation analysis revealed that the more aggressive a teenager under suspended sentence is, the lower his/her emotional intelligence, self-motivation and emotional awareness are, and as a result, the worse he/she distinguishes emotions of other people. The revealed significant interrelations between personal characteristics, emotional intelligence and aggression have shown that it is possible to control animosity and aggression of teenagers under suspended sentence if their self-motivation and emotional awareness are raised. The psychological status of teenagers under suspended sentence shows directions for psych corrective work with them which should include, besides individual consultations, group work to decrease aggression, situational and personal anxiety and, what is the most important, to form emotional competence.
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