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Potential effects of plastic waste: microplastics, a global concern. 塑料垃圾的潜在影响:微塑料,全球关注的问题。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-12-01 eCollection Date: 2025-01-01 DOI: 10.1590/0001-37653765202520250679
Marcia Parente Melo DA Costa, Fernando A M Rodrigues, Ivana L M Ferreira

The degradation of plastic materials has led to the emergence of new forms of reduced size (≤ 5 mm); know as microplastics (MPs). The presence of microplastics is a growing concern due to their persistence and, consequently, their ability to disseminate environmental pollutants. This review, in addition to providing an overview of the accumulation of plastic waste, which poses a risk to aquatic organisms and human health, seeks alternatives to mitigate this problem. To this end, we sought to address the main causes, sources, affected sites (soil, air, water), as well as the possible harmful effects caused by the presence of MPs on aquatic organisms and humans. The circular economy system has become an alternative for effectively reducing MPs in nature. In this context, we also presented an overview of trends in MP recycling, pollution control, and how proposed legislation on single-use plastic production is being discussed. Finally, an overview of scientific publications on the subject over the last ten years was presented.

塑料材料的降解导致了尺寸减小(≤5mm)的新形式的出现;被称为微塑料(MPs)。微塑料的存在日益引起人们的关注,因为它们具有持久性,从而能够传播环境污染物。本次审查除了概述对水生生物和人类健康构成风险的塑料废物的积累情况外,还寻求减轻这一问题的替代办法。为此,我们试图解决主要原因,来源,受影响的地点(土壤,空气,水),以及MPs的存在对水生生物和人类可能造成的有害影响。循环经济体系已成为有效减少自然界MPs的替代方案。在此背景下,我们还概述了MP回收,污染控制的趋势,以及如何讨论关于一次性塑料生产的拟议立法。最后,概述了过去十年来关于这一主题的科学出版物。
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引用次数: 0
Microplastic contamination in neotropical frugivorous bats (Phyllostomidae: Stenodermatinae, Carolliinae) shows no biome-specific differences between Cerrado and Amazon Forest. 新热带果食性蝙蝠(phyllostomae:窄皮目,Carolliinae)的微塑料污染在塞拉多和亚马逊森林之间没有生物群系特异性差异。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-12-01 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202520241267
Ana Beatriz Alencastre-Santos, Danielle Regina G Ribeiro-Brasil, Daniela DE Melo E Silva, Magali G Garcia, Letícia L Correia, Thiago B Vieira

Microplastic contamination has become an urgent concern for global ecosystems, especially for wildlife health in areas under intense anthropogenic pressures. This study analyzes the presence of microplastics in fruit bats (Phyllostomidae: Stenodermatinae and Carolliinae) in two Brazilian biomes: Cerrado and Amazon. Surprisingly, bats from the Amazon presented higher levels of contamination than those from the Cerrado, challenging the idea that more open and historically modified landscapes, such as the Cerrado, would have higher contamination. Land use and land cover classifications did not influence contamination levels, indicating that habitat-specific factors play a more relevant role. Contamination varied by organ, with the stomach presenting the highest concentrations in both biomes. Interestingly, bats from the subfamily Carolliinae, with more varied diets, presented higher contamination, probably due to dietary exposure and inhalation in anthropogenically altered areas. This study is the first to record microplastics in Cerrado bats and in detoxifying organs such as the liver. Our findings highlight the vulnerability of bats to microplastic pollution and the need for further research into its impacts, as well as suggesting conservation measures in regions of rapidly changing biodiversity.

微塑料污染已成为全球生态系统的一个紧迫问题,特别是对处于强烈人为压力地区的野生动物健康。本研究分析了巴西塞拉多和亚马逊两个生物群落中果蝠(毛囊蝠科:窄皮蝠科和卡罗林科)中微塑料的存在。令人惊讶的是,来自亚马逊的蝙蝠比来自塞拉多的蝙蝠表现出更高的污染水平,这挑战了塞拉多等更开放、更有历史变化的景观会有更高污染的想法。土地利用和土地覆盖分类不影响污染水平,表明生境特定因素发挥了更相关的作用。污染因器官而异,胃在两个生物群系中浓度最高。有趣的是,来自Carolliinae亚科的蝙蝠,饮食更多样化,呈现出更高的污染,可能是由于饮食暴露和吸入人为改变的区域。这项研究首次在塞拉多蝙蝠和肝脏等排毒器官中记录了微塑料。我们的研究结果强调了蝙蝠对微塑料污染的脆弱性,需要进一步研究其影响,并建议在生物多样性迅速变化的地区采取保护措施。
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引用次数: 0
Dual functionality of a waste-derived artificial enzyme: organophosphate degradation and DNA cleavage. 废物来源的人工酶的双重功能:有机磷降解和DNA切割。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-12-01 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202420250351
Willian H Takarada, Valmir B Silva, Marcelo Bueno Batista, Fernanda Fogagnoli Simas, Izabel C Riegel-Vidotti, Elisa S Orth

Pursuing artificial enzymes through materials engineering allows mimicking the high reactivity of natural enzymes while attaching new and desirable properties to the final material. For this, the use of biopolymers - including from waste - as precursors stands out due to their biocompatible features, harmlessness, easy handling, and low cost. Herein, we repurposed Black Wattle gum, an industrial waste from the tannin industry, into an imidazole-functionalized biocatalyst for dephosphorylation reactions. The obtained sample, GNAIMZ, was fully characterized by colorimetric assays, carbon-13 nuclear magnetic resonance, and potentiometric titrations, proving the chemical modification proposed. Then, GNAIMZ was evaluated with organophosphate simulant diethyl 2,4-dinitrophenylphosphate (DEDNPP) and real pesticide Paraoxon, unveiling rate enhancements up to 107-fold compared to the reaction in the absence of biocatalyst. At last, GNAIMZ was applied in DNA cleavage assays, unraveling a nuclease-like activity leading to total degradation of plasmid DNA at pH 7.5 for 12 hours. Overall, this study showcases the successful valorization of a waste-derived gum into a dual-function artificial enzyme for dephosphorylation reactions capable of neutralizing toxic organophosphates and promoting DNA cleavage, reinforcing the promising features of biopolymers as scaffolds for synthetic enzymes - even from byproducts - pursued to chemical security and genetic engineering.

通过材料工程追求人工酶,可以模仿天然酶的高反应性,同时在最终材料上附加新的和理想的性能。为此,生物聚合物(包括从废物中提取的)作为前体的使用因其生物相容性、无害、易于处理和低成本而脱颖而出。在此,我们将黑荆树胶,一种来自单宁工业的工业废料,重新利用成咪唑功能化的生物催化剂,用于去磷酸化反应。通过比色法、碳-13核磁共振和电位滴定对所得样品GNAIMZ进行了充分的表征,证明了所提出的化学修饰。然后,用有机磷模拟剂二乙基2,4-二硝基苯基磷酸(DEDNPP)和农药对氧磷(Paraoxon)对GNAIMZ进行了评价,结果表明,与没有生物催化剂的情况相比,GNAIMZ的反应速率提高了107倍。最后,将GNAIMZ应用于DNA切割实验,在pH为7.5的条件下,揭示出一种类似核酸酶的活性,导致质粒DNA在12小时内完全降解。总的来说,这项研究展示了废物来源的口香糖成功地转化为一种双重功能的人工酶,用于去磷酸化反应,能够中和有毒的有机磷酸盐并促进DNA切割,加强了生物聚合物作为合成酶支架的有前途的特征-甚至从副产品-追求化学安全和基因工程。
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引用次数: 0
Feeding ecology of six sympatric hylids (anura, hylidae) in a seasonally floodable environment in the brazilian Amazon. 巴西亚马逊地区季节性可淹水环境中六种同域水生动物(无尾目,水生科)的摄食生态。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-12-01 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202520241489
Elton F Monteiro, Jade B Mourão, Isabelly G Martins, David Soares, Raúl Maneyro, Alfredo P Santos-Jr

The knowledge of diet is essential to understanding species biology and thus fostering conservation strategies. This study described and compared the diet of six species of anurans in the family Hylidae (Boana punctata, B. raniceps, Dendropsophus leucophyllatus, D. walfordi, Lysapsus bolivianus, and Sphaenorhyncus lacteus), from a floodplain environment in the Brazilian Amazon. Research was conducted in the Lake Maicá complex, in Santarém municipality, Pará state, between April and August 2023. The diet of the six species was composed mainly of arthropods, with the order Diptera being the most common prey category, except in B. raniceps (Orthoptera) and S. lacteus (Formicidae). We observed a weak correlation between individual body size and the volume of prey consumed. Overall, niche overlap between species was high, with most having a broad trophic niche and generalist diets. The exception was S. lacteus, which had a diet which specialized on ants. Additionally, these findings emphasize the ecological role of hylid frogs in regulating some arthropods populations, reinforcing their significance in maintaining trophic dynamics in floodplain ecosystems.

饮食的知识对于理解物种生物学和培育保护策略至关重要。本研究描述并比较了巴西亚马逊河漫滩环境中水螅科六种无尾动物(Boana punctata, B. raniceps, Dendropsophus leucophyllatus, D. walfordi, Lysapsus bolivianus和Sphaenorhyncus lacteus)的饮食。研究于2023年4月至8月在帕尔州圣塔姆姆市的麦伊湖综合设施进行。6种食性均以节肢动物为主,除直翅目虻和蚁科虻外,以双翅目为最常见的捕食种类。我们观察到个体体型和猎物食量之间存在微弱的相关性。总体而言,物种之间的生态位重叠度很高,大多数物种具有广泛的营养生态位和广泛的饮食。唯一的例外是S. lacteus,它的饮食专门针对蚂蚁。此外,这些发现强调了水蛙在调节某些节肢动物种群中的生态作用,加强了它们在维持洪泛平原生态系统营养动态中的重要性。
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引用次数: 0
Biodegradable nanocomposite films containing combined ZnO and TiO₂ nanoparticles in PBAT: A strategy to mitigate microplastic persistence from food packaging. PBAT中含有氧化锌和二氧化钛纳米粒子的可生物降解纳米复合膜:一种减轻食品包装微塑料持久性的策略。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-12-01 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202520250559
Camila S G Ferreira, Priscila S E Souza, Dilma S Lacerda, Fernando A M Rodrigues, Gisele Cristina V Iulianelli

The persistent accumulation of microplastics from synthetic polymers threatens ecosystems and biodiversity. The use of biodegradable and compostable materials as alternatives to conventional plastics in food packaging has shown promise, particularly with the development of nanocomposites that can be tailored to meet market demands. In this study, ZnO and TiO₂ nanoparticles were combined and incorporated into a biodegradable poly(butylene adipate-co-terephthalate) (PBAT) matrix at varying concentrations, forming a novel ternary PBAT/ZnO/TiO₂ system. The films produced via melt processing were characterized using conventional and non-conventional techniques to evaluate their thermal, morphological, chemical, wettability, and biosafety properties. The results indicated that the combined addition of ZnO and TiO₂ slightly reduced the thermal stability and crystallinity of PBAT, while increasing surface hydrophilicity. These features may contribute to accelerated degradation and reduced environmental persistence. Furthermore, improvements in the elastic modulus and enhanced biosafety were observed across all tested concentrations. These findings suggest that the prepared nanocomposites, particularly at 0.75 and 1 wt%, not only possess properties suitable for food packaging applications but also demonstrate potential to mitigate environmental persistence through accelerated degradation. Therefore, this study supports the development of environmentally friendly materials for food packaging, addressing the urgent need to reduce microplastic pollution.

合成聚合物中微塑料的持续积累威胁着生态系统和生物多样性。在食品包装中使用可生物降解和可堆肥材料作为传统塑料的替代品已经显示出前景,特别是随着纳米复合材料的发展,可以根据市场需求进行定制。在本研究中,ZnO和TiO 2纳米颗粒结合并以不同浓度掺入可生物降解的聚己二酸丁二酯(PBAT)基质中,形成一种新型的PBAT/ZnO/TiO 2三元体系。采用常规和非常规技术对通过熔融处理制备的薄膜进行表征,以评估其热、形态、化学、润湿性和生物安全性。结果表明,ZnO和TiO 2的联合添加略微降低了PBAT的热稳定性和结晶度,但增加了表面亲水性。这些特征可能会加速退化和降低环境持久性。此外,在所有测试浓度中都观察到弹性模量的改善和生物安全性的增强。这些发现表明,制备的纳米复合材料,特别是在0.75和1wt %时,不仅具有适合食品包装应用的性能,而且还显示出通过加速降解来减轻环境持久性的潜力。因此,本研究支持了环保食品包装材料的开发,解决了减少微塑料污染的迫切需要。
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引用次数: 0
Eukaryotic diversity associated with the phycosphere of the seaweed Ulvaria obscura (Kützing) Gayral (Chlorophyta, Ulvophyceae) in the Svalbard Archipelago, Arctic region assessed using DNA metabarcoding. 利用DNA元条形码技术评估北极地区斯瓦尔巴群岛紫菜Ulvaria obscura (k<s:1> tzing) Gayral(绿藻目,紫菜科)藻圈的真核生物多样性。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-11-28 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202520240808
Paulo E A S Camara, Vivian N Gonçalves, Franciane M Pellizzari, Fabyano A C Lopes, Peter Convey, Marcelo H S Ramada, Thiago DA Silva Paiva, Micheline Carvalho-Silva, Luiz H Rosa

Microorganisms often occur in association with macroalgae, with the term "phycosphere" referring to the seaweed surface where they may be present. Phycosphere represents a poorly explored niche of marine diversity, especially in the polar regions. DNA metabarcoding provides a new and accessible method for the detection of DNA from different organisms, especially applicable for poorly known groups where taxonomic expertise is limited or unavailable. In this study we used DNA metabarcoding to provide an initial survey of eukaryotic communities associated with marine macroalgae obtained from the shores of Svalbard. Samples of Ulvaria obscura were sequenced and the DNA reads found were assigned to 75 taxa of six Kingdoms and 17 phyla: Chromista (Ciliophora, Haptophyta, Ochrophyta, Oomycota and Chrysophyta), Fungi (Ascomycota, Basidiomycota, Chytridiomycota, Mortierellomycota and Rozellomycota), Holozoa (Ichthyosporia), Metazoa (Cnidaria), Protozoa (Cercozoa, Discosea and Heterolobosea) and Viridiplantae (Bryophyta and Chlorophyta). The most abundant group was Viridiplantae, followed by Fungi. Our environmental DNA study confirmed that the phycosphere of U. obscura shelters a rich and complex microbiome, suggesting that Arctic macroalgae provide a hotspot of currently undescribed polar biodiversity. Additionally, our results were obtained during the first official Brazilian Arctic expedition, representing a historic step for the Brazilian Antarctic Program (PROANTAR).

微生物通常与大型藻类一起出现,术语“藻圈”指的是它们可能存在的海藻表面。藻圈代表了一个尚未被充分探索的海洋多样性生态位,特别是在极地地区。DNA元条形码技术为不同生物的DNA检测提供了一种新的、可获取的方法,尤其适用于分类技术有限或无法获得的未知群体。在这项研究中,我们使用DNA元条形码对从斯瓦尔巴群岛海岸获得的海洋巨藻相关的真核生物群落进行了初步调查。对暗箱Ulvaria的样品进行测序,发现的DNA序列可归属于6个界17个门的75个分类群,分别是:毛菌门(纤毛菌门、粘菌门、褐藻门、卵菌门和绿藻门)、真菌门(子囊菌门、担子菌门、壶菌门、Mortierellomycota和Rozellomycota)、全虫门(鱼孢子门)、后生动物门(刺胞门)、原生动物门(尾虫门、盘藻门和异藻门)和绿藻门(苔藓门和绿藻门)。最丰富的类群是绿植物,其次是真菌。我们的环境DNA研究证实,暗箱藻的藻圈中隐藏着丰富而复杂的微生物群,这表明北极大型藻类是目前尚未描述的极地生物多样性的热点。此外,我们的研究结果是在巴西第一次正式的北极考察中获得的,代表了巴西南极计划(PROANTAR)的历史性一步。
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引用次数: 0
Does the energy expenditure associated with training influence reduced adiposity in practitioners of exercise? Data from a cross-sectional population study. 与训练相关的能量消耗是否影响运动从业者的肥胖减少?数据来自一项横断面人口研究。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-11-28 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202520240058
Raquel Suelen B DA Silva, Marizângela F DE Souza, Matheus DA S Costa, Joane Raquel E Batista, Gisele Augusta M Franca, Francisca Karinny L Barbosa, Carolina F A Lopes, Glêbia A Cardoso, Alexandre S Silva

Meta-analyses have shown modest weight loss with physical training. Low training load can be one possible cause, however this has not yet been investigated. This cross-sectional study investigated the correlation between training load parameters and the body composition of 335 individuals engaged in exercise (47.9 ± 12.7 years, 138 males). Data on exercise frequency, intensity, duration, and body composition were collected. Men showed significantly higher energy expenditure during training (632.5, 95% CI: 560.0 - 704.5) compared to women (280.4, 95% CI: 253.9- 306.8). Greater energy expenditure was inversely correlated with lower body mass index (r=-0.23; p<0.05), body fat percentage (BF%) (r=-0.53; p<0.05), fat mass (r=-0.37; p<0.05), waist-to-hip ratio (r= -0.31; p<0.05), and visceral fat (r=-0.38; p<0.05) in both sexes. Significant correlations persisted when considering confounding factors among men, except for skeletal muscle mass. For women, only BF% and skeletal muscle mass correlations remained. Linear regression analysis indicated that to attain a BF% below 20%, individuals needed to expend 9.07 kcal/kg per training session in seven weekly sessions (r2= 0.33); however, only 15.2% of the participants met this energy demand. Thus, an adequate maintenance of adequate body fat levels appears to be dependent on individuals with a high energy expenditure during training, without significant reliance on other influencing factors.

荟萃分析显示,体育锻炼可以适度减轻体重。低训练负荷可能是一个可能的原因,但这还没有被调查。本横断面研究调查了335例(47.9±12.7岁,男性138例)运动个体的训练负荷参数与体成分的相关性。收集了运动频率、强度、持续时间和身体成分的数据。男性在训练期间的能量消耗(632.5,95%可信区间:560.0 - 704.5)明显高于女性(280.4,95%可信区间:253.9- 306.8)。较高的能量消耗与较低的体重指数呈负相关(r=-0.23; p
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引用次数: 0
Taphonomic analysis of Thanatosdrakon amaru (Pterodactyloidea: Azhdarchoidea) and paleoenvironmental reconstruction of the Plottier Formation (Upper Cretaceous, Neuquén Basin), Mendoza, Argentina. 阿根廷Mendoza地区翼手总目:azhdarcho总目Thanatosdrakon amaru的地理分类学分析与Plottier组的古环境重建。
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-11-28 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202520250487
Leonardo D Ortiz-David, Bernardo J González-Riga, Gabriel Casal, María Belén Tomaselli, Imanol Figueredo-Vieyra

The fossil remains of Thanatosdrakon from the Plottier Formation (PS-3 quarry, Mendoza, Argentina) offer a unique opportunity to investigate the preservation of pterosaurs in fluvial environments. The objective of this study is to reconstruct the taphonomic history of the holotype (UNCUYO-LD 307) and paratype (UNCUYO-LD 350). Detailed stratigraphic analysis together with taphonomic attributes allowed defining that the specimens were preserved with a variable drainage floodplain taphonomic mode (VDF-BA). Distinct taphonomic submodes were defined for each specimen, reflecting differences in biostratinomic and fosildiagenetic processes. The holotype, which was discovered in reddish pelites interpreted as floodplain deposits, exhibits associated skeletal elements suggesting rapid burial. In contrast, the paratype, composed of only one humerus, exhibits evidence of prolonged subaerial exposure, which is evidence that it was exposed to different paleoenvironmental conditions. These findings underscore the variable preservation pathways within the same depositional setting and highlight the influence of both rapid burial and prolonged exposure on the fragile skeletons of large pterosaurs. The taphonomic submodes that have been defined contribute valuable insights into the taphonomic biases that have shaped the pterosaur fossil record in the Cretaceous Patagonian basins.

来自Plottier组(阿根廷门多萨PS-3采石场)的Thanatosdrakon化石残骸为研究河流环境中翼龙的保存提供了一个独特的机会。本研究目的是重建全型(UNCUYO-LD 307)和准型(UNCUYO-LD 350)的分类历史。详细的地层学分析和地层学特征表明,这些标本是在一个可变的排水洪泛区地层学模式下保存的。为每个标本定义了不同的地层学亚模式,反映了生物层组学和化石成岩过程的差异。在被解释为洪泛平原沉积物的红色泥岩中发现的全型,显示出相关的骨骼元素,表明快速埋葬。相比之下,仅由一个肱骨组成的准型显示出长期暴露在地面上的证据,这表明它暴露于不同的古环境条件。这些发现强调了在同一沉积环境下的不同保存途径,并强调了快速埋葬和长时间暴露对大型翼龙脆弱骨骼的影响。已经确定的埋藏亚模式对形成白垩纪巴塔哥尼亚盆地翼龙化石记录的埋藏偏见提供了有价值的见解。
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引用次数: 0
Essential oils seem overrepresented in current traditional medicine research. Is this justified? 在目前的传统医学研究中,精油似乎被过度使用了。这是合理的吗?
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-11-28 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202420250694
Rayane DA Cruz Albino
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引用次数: 0
Comparative analysis of the frequencies of α-thalassemia-associated mutations in microcytic patients and healthy volunteers in Rio de Janeiro, Brazil. 巴西里约热内卢地区小细胞患者与健康志愿者α-地中海贫血相关突变频率的比较分析
IF 1.1 4区 综合性期刊 Q3 MULTIDISCIPLINARY SCIENCES Pub Date : 2025-11-28 eCollection Date: 2025-01-01 DOI: 10.1590/0001-3765202520241123
Eliana A Santos, Jamila Alessandra Perini, Marcos K Fleury, Luciana S Wermelinger, Renato S Carvalho

Thalassemia, an autosomal recessive genetic disorder affecting production of normal globin chains, presents varying prevalence worldwide. The frequency of global α-thalassemia remains understudied, especially in Brazil, due to its genetic diversity and large population size. This study compared α-thalassemia frequency between microcytic patients and healthy volunteers in Rio de Janeiro, stratified by self-reported skin color. DNA extracted from whole blood/EDTA underwent genotyping for α-thalassemia using multiplex PCR, targeting α3.7 kb, α4.2 kb, αSEA, αMED, αFIL, and α20.5 kb deletions. Frequency of α-thalassemia among patients was 63.6%, distributed as follows: 62.1% for α3.7 kb deletion, 0.7% for α4.2 kb deletion, and 0.8% for αSEA deletion. In healthy volunteers, the prevalence was 3.2%, distributed as 0.53% in self-declared white, 1.07% in brown, and 1.60% in black individuals, all presenting heterozygous genotype for α3.7 kb deletion. Frequency in healthy population was significantly lower than that observed in microcytosis population (p < 0.001). Determining α-thalassemia frequency in highly admixed population may enhance genetic counseling, given that asymptomatic carriers can produce offspring with combinations of Hb variants, potentially leading to severe clinical phenotypes.

地中海贫血是一种常染色体隐性遗传病,影响正常珠蛋白链的产生,在世界范围内呈现不同的患病率。全球α-地中海贫血的发病率仍未得到充分研究,特别是在巴西,由于其遗传多样性和庞大的人口规模。本研究比较了巴西巴西小细胞患者和健康志愿者之间α-地中海贫血的频率,并按自我报告的肤色分层。从全血/EDTA中提取的DNA使用多重PCR对α-地中海贫血进行基因分型,针对α3.7 kb、α4.2 kb、αSEA、αMED、αFIL和α20.5 kb的缺失。α-地中海贫血发生率为63.6%,α3.7 kb缺失62.1%,α4.2 kb缺失0.7%,αSEA缺失0.8%。在健康志愿者中,患病率为3.2%,其中白人为0.53%,棕色人种为1.07%,黑人为1.60%,均为α3.7 kb缺失的杂合基因型。健康人群的发病频率显著低于小细胞病人群(p < 0.001)。考虑到无症状携带者可以产生Hb变异组合的后代,可能导致严重的临床表型,在高度混合人群中确定α-地中海贫血的频率可以增强遗传咨询。
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引用次数: 0
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