scholarly journals Study of the features of the diversity of hereditary diseases in some populations of the North Caucasus

Author(s):  
Р.А. Зинченко ◽  
В.В. Кадышев ◽  
Г.И. Ельчинова ◽  
А.В. Марахонов ◽  
Т.А. Васильева ◽  
...  

Изучены особенности распространения наследственных болезней (НБ) у населения Карачаево-Черкесской Республики (КЧР). Суммарная численность обследованной выборки - 410 368 человек, что составило более чем 86% от проживающих на территории региона. Оценена отягощенность городского и сельского населения 21 субпопуляции аутосомно-доминантной (АД), аутосомно-рецессивной (АР) и Х-сцепленной (Х-сц.) патологией. Средневзвешенное значение груза АД, АР и Х-сц. патологии у городского населения (1,46±0,08, 1,19±0,07 и 0,49±0,06, соответственно) более чем в два раза ниже, чем сельского (3,76±0,16, 2,57±0,13 и 1,34±0,13, соответственно). На основании корреляций между грузом НБ и основными популяционно-генетическими характеристиками в 21 субпопуляции предположено, что выявленная дифференциация в отягощенности населения НБ может объясняться действием эффективного дрейфа. Разнообразие выявленных НБ представлено 230 нозологическими формами: 128 АД заболеваний (954 больных из 578 семей), 73 АР болезней (718 пациентов из 589 семей) и 29 Х-сц. болезней (185 больных из 135 семей). Проведенный анализ разнообразия НБ в соответствии с частотой встречаемости показал, что 15 нозологических форм (АД, АР и Х-сц.) встретились с распространенностью чаще, чем 1:20000 населения, аккумулировав основную долю больных (50,31%, 68,66% и 65,95%, соответственно). Выявленные НБ являются частыми и для других популяций европейской части России, однако определены и различия по частоте встречаемости. Пятьдесят одно заболевание (22 с АД, 21 с АР и 8 с Х-сц. типами наследования) впервые зарегистрированы в генетико-эпидемиологических исследованиях по популяциям европейской части РФ. Большинство из них (78,43%) - редкие заболевания с распространенностью менее 1:200000. Сравнение нозологического спектра НБ в КЧР с ранее изученными популяциями европейской части РФ показал выраженную регион-специфичность и эндемичность 22 заболеваний (АД, АР и Х-сц.), которые встречаются значительно реже, либо вообще не встречаются в других популяциях РФ. The peculiarities of distribution of hereditary pathology (HP) in the population of the Karachay-Cherkess Republic (KChR). The total number of the surveyed sample is 410 368 people representing more than 86% of the population in the region. The load of AD, AR and X-linked pathology in urban and rural populations with 21 subpopulations is estimated. The weighted average value of the load of AD, AR and X-linked pathology in the urban population (1.46±0.08, 1.19±0.07 and 0.49±0.06, respectively) is more than twice lower than in the rural population (3.76±0.16, 2.57±0.13 and 1.34±0.13, respectively). Based on the correlations between the load of HP and the main population genetic characteristics in 21 subpopulations, it is assumed that the revealed differentiation in the load of HP in different populations could be explained by the effect of genetic drift. The variety of revealed HP is represented by 230 nosological forms: 128 with inheritance type AD (954 patients from 578 families), 73 with AR (718 patients from 589 families) and 29 with X-linked (185 patients from 135 families). The analysis of the diversity of HP in accordance with the frequency of diseases showed that 15 nosological forms (AD, AR and X-linked) with a prevalence of more than 1:20000 accumulate in the majority of patients (50.31%, 68.66% and 65.95%, respectively). The revealed HP are frequent for other populations of the European part of Russia, however, some peculiarities in occurrence are determined. Fifty one disease (22 with AD, 21 with AR and 8 with X-linked type of inheritance) were registered in genetic and epidemiological studies on populations of the European part of the Russia for the first time, most of which (78.43%) belong to the group of rare and identified with a prevalence of less than 1:200000. A comparative analysis of the nosological spectrum of HP with previously studied populations of the European part of the Russia showed that several HP demonstrated marked region-specificity and accumulation in the KChR - 22 diseases (AD, AR and X-linked), which are much rarer, or do not occur in other populations of the Russian Federation.

Author(s):  
Р.А. Зинченко ◽  
Е.К. Гинтер ◽  
С.И. Куцев

Проведен анализ результатов генетико-эпидемиологических исследований наследственных болезней (НБ) в 14 регионах европейской части России, Юга России, Северного Кавказа, Волго-Уральского региона с суммарной численностью обследованного населения около 4 млн чел. Изучены пространственная изменчивость и генетическая гетерогенность НБ у населения различных регионов и в полиэтнических популяциях РФ. Выделены частые НБ, характерные как для всего населения конкретных регионов, так и заболевания, специфичные для отдельных этносов. Выявлена гетерогенность НБ в популяциях и этносах, как аллельная, так и локусная. Зарегистрированы ранее не описанные НБ, эндемичные для конкретных этносов. Показано, что в популяциях с различной этнической экстракцией каждый народ в своем генофонде сохранил специфический спектр, распространенность и генетическую природу НБ. Проведенный анализ позволил подойти к решению фундаментальной проблемы медицинской генетики - эволюции НБ в различных популяциях и этнических группах. The results of genetic and epidemiological studies of hereditary diseases (HD) in 14 regions of the European part of Russia, the South of Russia, the North Caucasus, the Volga-Ural region, with a total population of about 4 million people surveyed were analyzed. Spatial variability and genetic heterogeneity of HD in the population of different regions and in multi-ethnic populations of Russia have been studied. Frequent HD that are typical for the entire population of specific regions, as well as diseases specific to individual ethnic groups were identified. Significant heterogeneity of populations and ethnic groups, both allelic and locus, has been detected. Novel previously undescribed HD which are endemic for specific ethnic groups have been registered. It was shown that in populations with different ethnic extraction each ethnic group in its gene pool has preserved specific spectrum, prevalence and genetic nature of HD. Complex multifaceted analysis allowed us to approach the fundamental problem of medical genetics - the evolution of HD in different populations and ethnic groups.


2020 ◽  
Vol 16 (2) ◽  
pp. 225-331
Author(s):  
A.V. Fateryga ◽  
◽  
M.Yu. Proshchalykin ◽  

New data on 22 species of bees of the family Megachilidae from the North Caucasus and the south of European Russia are reported. Six species are new to Russia: Hoplitis curvipes (Morawitz, 1871), Osmia cinerea Warncke, 1988, O. ligurica Morawitz, 1868, O. cyanoxantha Pérez, 1879, Protosmia glutinosa (Giraud, 1871), and Coelioxys mielbergi Morawitz, 1880. Hoplitis turcestanica (Dalla Torre, 1896), sp. resurr. is treated as a distinct species, not a junior synonym of H. caularis (Morawitz, 1875). Megachile albocristata Smith, 1853 and M. alborufa Friese, 1911 are listed instead of previously recorded M. lefebvrei (Lepeletier de Saint-Fargeau, 1841) and M. pyrenaica (Lepeletier de Saint-Fargeau, 1841), respectively. Fourteen new regional records are reported: seven species are new to the North Caucasus, five ones are new to the south of European Russia, and two species are new to the European part of Russia as a whole. The numbers of megachilid bee species currently known in Russia, the North Caucasus, and the south of European Russia are 217, 130, and 71, respectively. The lectotype of Osmia proxima Morawitz, 1875 is designated.


2011 ◽  
pp. 101-116 ◽  
Author(s):  
B. Yu. Teteryuk

The results of a sintaxonomical study of plant communities of the Yamozero lake (the North-East of the European part of Russia) are presented. The diversity of the aquatic and helophytic vegetation of the Yamozero lake consists of 16 associations and 2 communities of 6 unions, 4 orders and 2 classes of the floristic classification: Potamogetonetea (7 associations, 2 communities), Phragmito-Magnocaricetea (9 associations). Many of described associations are widely distributed in the Central and the Eastern Europe. Some associations have the boundaries of their ranges. Some communities include 2 rare species of regional level: Isoetes setacea and Sagittaria natans.


2020 ◽  
Vol 163 ◽  
pp. 04003
Author(s):  
Sergey Kharchenko ◽  
Yury Belyaev

The paper describes the methodology and presents the results of the calculation of the spectral characteristics of the terrain for the territory of the Bolshezemelskaya and Malozemelskaya Tundra (the north of the European part of Russia). There are nine terrain clusters, differing in the topographic dissection pattern. Their geomorphological interpretation is given. Three clusters characterize mountainous and coarsely hilly terrain with the depth of dissection from 150 m and more. The others are low and elevated terrains with much lower depths of dissection (up to 50 m) and different patterns of interposition of landforms.


Author(s):  
V.V. Guryanov ◽  
A.K. Sungatullin

The spatio-temporal variability of the average values of temperature indices of climate extremity in the territory of the European part of Russia (ER) in 1980-2019 is presented. To calculate the extremeness indices, we used hourly data on the maximum and minimum temperatures obtained using the ERA5 reanalysis on a 1°´1° spatial grid. Statistical processing of the index values revealed an increase in the temperature indices TNX, TNN, TXN, TXX, associated with the minimum and maximum temperatures, with the exception of the north and southeast of the region. An increase in the number of sunny days and a decrease in the number of frosty days were also revealed.


2020 ◽  
Vol 98 (Supplement_4) ◽  
pp. 19-20
Author(s):  
Marina I Selionova ◽  
Magomet M Aibazov ◽  
Tatyana V Mamontova ◽  
Sergey N Petrov ◽  
Veronica R Kharzinova ◽  
...  

Abstract Goat breeding is a traditional livestock industry for many regions of Russia. Due to unpretentiousness and high adaptive qualities, the Karachai, Dagestan wool and Dagestan down breeds are widespread in the North Caucasus. Moreover, their uniqueness is determined by sharing a common habitat with their wild relatives, West Caucasian and Dagestani turs, thus forming hybrid zones. The aim of the research was to study allele pool and interbreed differentiation of domestic goat breeds and wild relatives by microsatellites. Research was performed based on 16 loci on the ABI 3130xl analyzer. Population genetic characteristics were calculated in GenAlEx 6.5, and the phylogenetic tree was constructed in Populations 1.2.30 and SplitsTree 4.14.5. The sample collection included goat breeds (n = 226): Karachai (KRCH), Dagestan down (DAGD), Dagestan wool (DAGW) (North Caucasus), Soviet wool (SOVW) (Siberia), Orenburg (OREN) (South Ural), and wild goats (n = 72). Wild goats comprised mountain goats: Siberian goats (Capra sibirica) from the Altai, Tajikistan, Kyrgyzstan and the Himalayas; bezoar goats (Capra aegagrus) from Turkey and Pakistan; and tur (Capra caucasica) from the West Caucasus (Kuban), Central Caucasus, and East Caucasus (Dagestan). The Karachai breed was characterized by the highest level of genetic diversity: the average number of alleles per locus (NA) and allelic richness (AR) were 9,154 and 7,713, respectively, while these indices varied from 6,538 to 7,538 and from 6,425 to 7,538 (Table 1) in other breeds, respectively. The values of genetic distances showed differentiation of Karachai, Dagestan down and Dagestan wool breeds from Orenburg and Soviet wool breeds (Table 2). The formation of three clusters was established. The first one included subspecies of the Caucasian tur, the second one comprised Siberian goats, and the third contained domestic goats. Bezoar goats were in the root of the third cluster that confirmed their participation as an ancestral form of domestic goats.


2020 ◽  
Vol 193 (2) ◽  
pp. 20-26
Author(s):  
A. Tedeyeva ◽  
A. Abayev ◽  
V. Tedeyeva ◽  
Natalia Khokhoeva

Abstract. The authors present the results of the use of herbicides on winter wheat crops in the steppe zone of North Ossetia-Alania. The purpose of the work is to study the effectiveness of the use of herbicides in winter wheat crops. The object of research is two varieties of winter wheat – Trio and Utrish, which differ in maturity, susceptibility to leaf-stem pathogens. The novelty lies in the fact that for the first time in the steppe zone of the Mozdok region, in the research and production department of the North Caucasus Research Institute of Mining and Piedmont Agriculture of the All-Russian Scientific Center of the Russian Academy of Sciences, the effectiveness of the use of herbicides in winter wheat crops was studied, an economic assessment of the studied agricultural techniques was given. Methods. The counts and observations were carried out according to generally accepted methods described in the “Educational-methodical guide for conducting research in agronomy”. Results. As a result of the use of herbicides and their tank mixture, it contributed to a significant reduction in the number of weeds (the percentage of death in the bumping phase varied between 55.9–81.1 % compared to the control). The removal of mineral nutrition elements by weeds was: nitrogen – 72.6 kg/ha, phosphorus – 14.4 kg/ha, potassium-52.4 kg/ha. Herbicides had a positive effect on photosynthetic activity. The leaf area during its maximum development (earing phase) according to the studied variants increased by 12.7–16.4 %, and the photosynthetic potential – by 13.7–17.8 %. The PPF for the studied options (the average value for the growing season) increased by 0.34–0.51 g/m2 per day. The studied drugs contributed to a significant increase in productivity. The largest increase was obtained according to the option: Grench (5 g/ha) + Luvaram (800 ml / ha) – 2.39–2.60 t/ha. The profitability level in the control (without herbicides) was at the level of 25.7 % (grade Trio), and according to the studied options ranged from 148.7 % (Luvarum 1600 ml / ha) to 169.2 % (Grench 5 g/ha + Luvaram 800 ml/ha).


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