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A.M. Kalimagambetov1 , A.A. Sarsenovа1* , S.S. Zhumagulovа2 , N.A

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A.M. Kalimagambetov1 , A.A. Sarsenovа1* , S.S. Zhumagulovа2 , N.A ISSN 1563-034Х; еISSN 2617-7358 Экология сериясы. №2 (67). 2021 https://bulletin-ecology.kaznu.kz IRSTI 34.23.51;87.25.00 https://doi.org/10.26577/EJE.2021.v67.i2.07 A.M. Kalimagambetov1 , A.A. Sarsenovа1* , S.S. Zhumagulovа2 , N.A. Musrepova2 1Al-Farabi Kazakh National University, Kazakhstan, Almaty 2Aktobe Regional Prenatal Center, Clinical Diagnostic Laboratory, Kazakstan, Aktobe *e-mail: [email protected] CHROMOSOMAL ANOMALIES OF THE FETUS OF PREGNANT WOMEN FROM SETTLEMENTS PRONE TO TECHNOGENIC POLLUTION The article presents the analysis results of the spectrum and frequency of distribution of the fetus chromosomal set of 590 pregnant women living in the city of Aktobe and various districts of the Aktobe region in Kazakhstan. Biological material was obtained by biopsy of the chorion and placenta, amnio- centesis and cordocentesis. For the preparation of chromosome formations, the conventional “direct” method and the classical method of cell cultivation were used. Metaphase cells were stained with GTG and FISH methods. In total, 64 (10.9%) cases of fetal karyotype abnormalities were detected. Of these, genomic abnormalities accounted for 59 (10.0%), and structural – 5 (8.5%). Among the genomic ab- normalities in 39 (66.1%) cases, the fetus had a Down syndrome karyotype. The frequency of chromo- somal abnormalities in the fetus of pregnant women in Aktobe, where industrial facilities of ferrous and nonferrous metallurgy are located, was 7.9%. The frequency of fetal chromosomal abnormalities in 3 districts of Aktobe region (fetal karyotypes of 39 pregnant women were studied) without large industrial facilities was 12.8%, and with the presence of large industrial complexes in 5 districts (fetal karyotypes of 131 pregnant women were studied) – 19,8%, which is 1.5 times more. Thus, it can be assumed that technogenic pollution by large industrial complexes (mining, cement, chemical, oil and gas processing industries) of places of residence contributes to the appearance of genomic and structural disorders of the genetic apparatus of human cells. Key words: prenatal diagnosis, fetal karyotype, chromosomal abnormalities, technogenic factor. А.М. Қалимағамбетов1, А.А. Сәрсенова1*, С.С. Жумагулова2, Н.А. Мусрепова2 1Әл-Фараби атындағы Қазақ ұлттық университеті, Қазақстан, Алматы қ. 2Ақтөбе облыстық пренаталды орталығы, клинико-диагностикалық зертхана, Қазақстан, Ақтөбе қ. *e-mail: [email protected] Техногендік ластануға ұшыраған елді мекендерде тұратын жүкті әйелдер ұрығының хромосомалық бұзылыстары Қазақстанда Ақтөбе қаласы мен Ақтөбе облысындағы экологиялық жағдай ең қолайсыз жағдайлардың бірі болып саналады. Бұл тау-кен, химия, мұнай-газ өңдеу, қара және түсті металлургия, құрылыс материалдар өндірісі кәсіпорындарының болуына байланысты. Ақтөбе қаласында және Ақтөбе облысының 8 ауданында тұратын жүкті әйелдер ұрығының хромосомалық жиынтығының спектрі мен таралу жиілігіне 2018 жылдан 2020 жылға дейін талдау жасалды. Ақтөбе облыстық пренатальды орталығының клиникалық диагностикалық зертханасында 590 жүкті әйелдің ұрықтың хромосома жиынтығына цитогенетикалық зерттеулер жүргізілді. Биологиялық материал хорион мен плацентаның биопсиясы, амниоцентез және кордоцентез бойынша алынды. Хромосома препараттарын дайындау үшін кәдімгі «тікелей» әдіс және клеткаларды өсірудің классикалық әдісі қолданылды. Метафазалық клеткалары GTG және FISH әдістерімен боялған. ISCN 2013 жүйесі бойынша хромосомалардың сандық және құрылымдық ауытқулары тіркелді. Ұрық кариотипінің ауытқулары 64 (10,9%) жағдайларда анықталды. Олардың ішінде геномдық ауытқулар 59 (10,0%) жағдайда, ал құрылымдық – 5 (8,5%) жағдайда байқалды. Геномдық ауытқулардың арасында Даун синдромының кариотипі 39 (66,1%) ұрықтарда кездесті. Жүкті әйелдердің тұру аймақтарына байланысты ұрықтың хромосомалық патологиясының жиілігінде өзгергіштік байқалды. Қара және түсті металлургияның өндірістік нысандары орналасқан Ақтөбе қаласындағы жүкті әйелдердің ұрығындағы хромосомалық ауытқулардың жиілігі 7,9% құрады. Ірі өндірістік кешендері орналаспаған Ақтөбе облысының 3 ауданындағы (39 жүкті әйелдің ұрық кариотиптері зерттелді) ұрықтың хромосомалық жиынтығындағы ауытқулардың жиілігі 12,8% 68 © 2021 Al-Farabi Kazakh National University A.M. Kalimagambetov et al. құрады, ал ірі өндірістік кешендері орналасқан 5 ауданында (131 жүкті әйелдің ұрық кариотиптері зерттелген) – 19,8%, яғни 1,5 есе артуын көрсетті. Осылайша, ірі өнеркәсіптік кешендердің (тау- кен, цемент, химия, мұнай және газ өңдеу өнеркәсібі) техногендік ластануы адам клеткаларының генетикалық аппараттарының геномдық және құрылымдық бұзылыстарының пайда болуына мүмкіндік тудырады деп болжауға болады. Түйін сөздер: пренаталды диагностика, ұрықтың кариотипы, хромосомалық бұзылыстар, техногендік фактор. А.М. Калимагамбетов1, А.А. Сарсенова1*, С.С. Жумагулова2, Н.А. Мусрепова2 1Казахский национальный университет имени аль-Фараби, Казахстан, г. Алматы 2Актюбинский областной пренатальный центр, клинико-диагностическая лаборатория, Казакстан, г. Актобе *e-mail: [email protected] Хромосомные аномалии плода беременных женщин из населенных пунктов, подверженных техногенному загрязнению Экологическая обстановка в г. Актобе и Актюбинская области Казахстана считается одной из самых неблагополучных регионов. Это обусловлено наличием предприятий горнодобывающей, химической, нефтегазоперерабатывающей промышленности, черной и цветной металлургии, производства строительных материалов. В работе проведен анализ спектра и частоты распределения нарушении хромосомного набора плода беременных женщин, проживающих в г. Актобе и в 8 районах Актюбинской области. За период с 2018 по 2020 г.г. в клинико-диагностической лаборатории Актюбинского областного пренатального центра проведены цитогенетические исследования хромосомного набора плодов 590 беременных женщин. Биологический материал получен путем биопсии хориона и плаценты, амниоцентеза и кордоцентеза. Для приготовления препаратов хромосом использовались общепринятый «прямой» метод и классический метод культивирования клеток. Метафазные клетки окрашивались GTG- и FISH-методами. Численные и структурные нарушения хромосом учитывались по системе ISCN 2013. Всего обнаружено 64 (10,9%) случая нарушений кариотипа плода. Из них геномные нарушения составили – 59 (10,0%), а структурные – 5 (8,5%). Среди геномных отклонений в 39 (66,1%) случаях у плода выявлен кариотип синдрома Дауна. Частота хромосомных нарушений плода беременных женщин г. Актобе, где располагаются промышленные объекты черной и цветной металлургии, составила 7,9%. Частота хромосомных нарушений плода в 3-х районах Актюбинской области (исследованы кариотипы плода 39 беременных женщин) без крупных промышленных объектов составила 12,8%, а с наличием крупных промышленных комплексов в 5-ти районах (исследованы кариотипы плода 131 беременной женщины) – 19,8%, что больше в 1,5 раза. Таким образом, можно предположить, что техногенное загрязнение крупными промышленными комплексами (горнодобывающей, цементной, химической, нефтегазоперера- батывающей промышленности) мест проживания способствует появлению геномных и структурных нарушений генетического аппарата клеток человека. Ключевые слова: пренатальная диагностика, кариотип плода, хромосомные нарушения, техногенный фактор. Introduction intolerance. It is known that the consequences of chemical carcinogenesis and mutagenesis lead to the Currently, the study of congenital diseases emergence and development of genetic diseases in related to the number and structure of chromosomes the body and increase the presence of birth defects in is a considerable issue. At the same time, along regions with poor ecology [2]. with the type of hereditary diseases, it is necessary Studies have demonstrated that the population to determine the cause of its occurrence. In most of Vladikavkaz residents has a genotoxin effect of regions, the cause of congenital malformations environmental mutagens. A link between an increase may be the consequences of man-made pollution of in the level of chromosomal disorders in individuals various concentrated production facilities [1]. associated with harmful production and those who The connection between atmospheric air pollution have nothing to do with it was found. Indeed, the and genetic diseases was revealed. The mutagenicity incidence of congenital malformations, stillbirths, of chemicals released into the air from production sites and intrauterine mortality among residents of this leads to chromosomal diseases, which in turn leads city is enlarging [3]. to neoplasms, spontaneous miscarriage, perinatal According to data researched in this field, fetal death, developmental abnormalities and child environmental pollution by chemical and radioactive 69 Chromosomal anomalies of the fetus of pregnant women from settlements prone to technogenic pollution waste developes the chromosomal instability of the the combustion of polyvinyl chloride, polyethylene human genome, increasing the risk of chromosomal and other polymers have significant mutagenic aberrations in the blood lymphocytes of people of activity. This is typical for cities with a developed different age groups among the population [4]. metallurgical and chemical industry [13]. In Spain, among the workers working at the According to the Ministry of the World Health Prestige oil production complex, there was a break Organization, the development of the fetus during in the chromosomal strands and it was found that perinatal time is 25% dependent on the environment. the impact of oil does not extend to the human body The greatest danger is
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