Genetic characteristics

遗传特征
  • 文章类型: Editorial
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  • 文章类型: Journal Article
    背景:人腺病毒(HAdV)是引起儿童急性呼吸道感染(ARI)的重要病原体。许多国家,包括中国,曾经历过与HAdV-4相关的零星或暴发,并报告了死亡病例。然而,关于HAdV-4的研究很少,中国HAdV-4的流行情况鲜为人知。本研究旨在了解中国ARI儿童HAdV-4的患病率和遗传特征。
    方法:收集2017-2020年在中国北方和南方6家医院住院的ARI患儿的呼吸道样本进行HAdV检测和分型。收集HAdV-4阳性患者的临床信息,进行临床特征和流行病学分析。对主要衣壳蛋白和全基因组序列进行扩增和测序,进行生物信息学分析。
    结果:有2847名ARI儿童注册,共检出HAdV阳性样本156例(5.48%)。鉴定出11个HAdV-4阳性样本,占总样本的0.39%和HAdV阳性样本的7.05%。主要表现为发热和咳嗽。两个孩子患有结膜炎。两名儿童被诊断为重症肺炎并出现呼吸衰竭。其中一人发展为噬血细胞综合征,并在儿科重症监护病房(PICU)检查。这个孩子有室间隔缺损。所有的孩子都康复了。本研究获得的HAdV-4分离株与中国参考株位于同一系统发育分支(HAdV-4a),而原型菌株和疫苗菌株形成了另一个分支(HAdV-4p)。与原型应变相比,三种主要衣壳蛋白中存在一些氨基酸突变。根据重组分析,没有发现新的重组。
    结论:住院ARI患儿HAdV-4的检出率为0.39%,占所有HAdV阳性样本的7.05%。本研究中获得的HAdV-4分离株和来自中国的其他参考菌株属于HAdV-4a亚型。我们的数据为监测提供了参考,HAdV-4的预防和控制,以及疫苗和药物的研发。
    BACKGROUND: Human adenovirus (HAdV) is an important pathogen causing acute respiratory infection (ARI) in children. Many countries, including China, have experienced sporadic or outbreaks related to HAdV-4, and death cases were reported. However, there is little research on HAdV-4 and the epidemic situation of HAdV-4 in China is little known. This study was designed to comprehend the prevalence and genetic characteristics of HAdV-4 in ARI children in China.
    METHODS: Respiratory tract samples from ARI children hospitalized in six hospitals of Northern and Southern China from 2017 to 2020 were collected for HAdV detection and typing. Clinical information was collected from HAdV-4 positive patients for clinical characteristics and epidemiological analysis. The main capsid proteins and the whole genome sequences were amplified and sequenced for bioinformatics analysis.
    RESULTS: There were 2847 ARI children enrolled, and 156 (5.48%) HAdV positive samples were detected. Eleven HAdV-4 positive samples were identified, accounting for 0.39% of the total samples and 7.05% of the HAdV positive samples. The main manifestations were fever and cough. Two children had conjunctivitis. Two children were diagnosed with severe pneumonia and developed respiratory failure. One of them developed hemophagocytic syndrome and checked in pediatric intensive care unit (PICU). This child had ventricular septal defect. All the children recovered. The isolated strains of HAdV-4 obtained in this study and the reference strains from China located in the same phylogenetic branch (HAdV-4a), while the prototype strain and vaccine strains formed another branch (HAdV-4p). Upon comparison with the prototype strain, there were a few amino acid mutations existing in three major capsid proteins. According to recombination analysis, no new recombination was found.
    CONCLUSIONS: The detection rate of HAdV-4 in children hospitalized with ARI was 0.39% in the total samples and 7.05% of all HAdV positive samples. HAdV-4 isolates obtained in this study and other reference strains from China belonged to the HAdV-4a subtype. Our data provided reference for the monitoring, prevention and control of HAdV-4, as well as the research and development of vaccines and drugs.
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  • 文章类型: Journal Article
    葡萄膜和结膜黑素瘤是相对罕见的肿瘤;尽管如此,它们对大量受影响的个体构成显著的死亡风险.黑色素瘤在不同部位的发病机制非常相似,然而,眼部黑色素瘤患者的预后仍然不利,主要是由于其独特的遗传特征和肿瘤微环境。尽管在理解遗传特征和生物学行为方面取得了重大进展,葡萄膜和结膜黑色素瘤的治疗仍然是一个艰巨的挑战。为了增强成功的前景,涉及眼生物学和肿瘤学领域的医学专业人员和研究人员的合作努力至关重要。目前的数据表明,缺乏精心设计的随机临床试验,目前对这些肿瘤的治疗形式的益处有限。尽管在发展有效的黑色素瘤治疗策略方面取得了进展,目前所有葡萄膜黑色素瘤(UM)和结膜黑色素瘤(CoM)的治疗方法都不能令人满意,导致长期预后不良。正在进行的试验为晚期和转移性肿瘤的积极结果提供了希望。对眼部黑素瘤发生发展过程中涉及的遗传和分子异常的更全面了解,为个性化治疗的发展开辟了道路,目前正在考虑各种潜在的治疗目标。对UM和CoM的分子发病机制及其特异性的理解增加可能有助于开发新的和更有效的全身治疗剂。希望改善转移性疾病患者的预后。
    Uveal and conjunctival melanomas are relatively rare tumors; nonetheless, they pose a significant risk of mortality for a large number of affected individuals. The pathogenesis of melanoma at different sites is very similar, however, the prognosis for patients with ocular melanoma remains unfavourable, primarily due to its distinctive genetic profile and tumor microenvironment. Regardless of considerable advances in understanding the genetic characteristics and biological behaviour, the treatment of uveal and conjunctival melanoma remains a formidable challenge. To enhance the prospect of success, collaborative efforts involving medical professionals and researchers in the fields of ocular biology and oncology are essential. Current data show a lack of well-designed randomized clinical trials and limited benefits in current forms of treatment for these tumors. Despite advancements in the development of effective melanoma therapeutic strategies, all current treatments for uveal melanoma (UM) and conjunctival melanoma (CoM) remain unsatisfactory, resulting in a poor long-term prognosis. Ongoing trials offer hope for positive outcomes in advanced and metastatic tumors. A more comprehensive understanding of the genetic and molecular abnormalities involved in the development and progression of ocular melanomas opens the way for the development of personalized therapy, with various potential therapeutic targets currently under consideration. Increased comprehension of the molecular pathogenesis of UM and CoM and their specificities may aid in the development of new and more effective systemic therapeutic agents, with the hope of improving the prognosis for patients with metastatic disease.
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  • 文章类型: Published Erratum
    [这更正了文章DOI:10.3389/fgene.2024.1395988。].
    [This corrects the article DOI: 10.3389/fgene.2024.1395988.].
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  • 文章类型: Journal Article
    This work provides a comprehensive review of the history, status, and genetic characteristics of cattle breeds in Kazakhstan. The current breeding status is analysed, including information on popular breeds such as Kazakh white-headed, Auliekol, Alatau, Aulieata, and Kalmyk, their production and economic significance. An overview of genetic studies using DNA fingerprinting, microsatellites, and SNPs aimed at identifying unique characteristics, genetic diversity, and genes under selection, as well as markers of economically important and productive traits of Kazakh cattle breeds, is also provided. The study examined the genetic structure of the Kazakh white-headed and Alatau breeds based on whole-genome SNP genotyping. Unique genetic components characterizing Kazakhstan cattle breeds were described, and comparisons were made with genetic data from other breeds. Structural analysis showed that the Kazakh white-headed breed contains genetic components of the Hereford, Kalmyk, and Altai cattle. The Alatau breed has a composite structure, containing components of the Brown Swiss, Braunvieh, Kalmyk, and Holstein breeds. The results not only reveal the genetic diversity and characteristics of cattle breeds in Kazakhstan and the historical development and current state of animal husbandry in the country, but also emphasize the importance of further research to identify adaptive and unique genetic markers affecting economically important traits of local breeds.
    В этой работе мы представляем обзор истории происхождения, текущего состояния и генетических особенностей пород крупного рогатого скота (КРС) Казахстана. Отражена информация о современном состоянии разведения, в том числе о пяти наиболее популярных локальных породах – казахской белоголовой, аулиекольской, алатауской, аулиеатинской и калмыцкой, в рамках их производственной и экономической значимости. Приведен обзор генетических исследований по этим породам, направленных на выявление их уникальных характеристик, генетического разнообразия и генов, находящихся под давлением отбора, а также ДНК-маркеров экономически важных и продуктивных признаков казахстанских пород КРС. Представлены также оригинальные данные по особенностям генетической структуры казахской белоголовой и алатауской пород на основе результатов полногеномного генотипирования однонуклеотидных полиморфизмов. Описаны уникальные генетические компоненты, характеризующие эти породы КРС Казахстана, и проведено их сравнение с генетической структурой популяций этих же и других пород из Российской Федерации. Структурный анализ показал, что казахская белоголовая порода содержит генетические компоненты герефордской и калмыцкой пород, а также алтайского скота. Алатауская порода имеет композитную структуру и содержит компоненты бурой швицкой, браунви, калмыцкой и голштинской пород. Результаты демонстрируют генетическое разнообразие и особенности пород КРС Казахстана, развитие и текущее состояние скотоводства в стране, а также подчеркивают необходимость более детальных исследований для выявления генетических маркеров адаптации и экономически важных признаков местных пород.
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  • 文章类型: Journal Article
    手,口蹄疫(HFMD)是过去几十年来最常见的传染病之一。2013年后,柯萨奇病毒A6(CVA6)取代了肠道病毒71(EV-A71)和柯萨奇病毒A16(CVA16),在中国许多地区已成为手足口病的主要病原。本研究的目的是调查2022-2023年临沂市CVA6的遗传特征和分子流行病学。本研究共纳入965例HFMD病例,并基于VP1核苷酸序列进行分析以确定CVA6的进化轨迹。2022年,281例(281/386,72.8%)肠道病毒(EV)阳性,CVA6阳性217例(217/281,77.2%)。2023年,398个(398/579,68.7%)样本为电动汽车阳性,CVA6阳性243例(243/398,61.1%)。每年选择6个序列进行同源性分析。结果表明,临沂分离的12株菌株与原型菌株(AY421764)和中国报道的第一株CVA6菌株(JQ364886)相去甚远。系统发育分析表明,临沂分离的CVA6菌株均属于D3亚型。CVA6是临沂手足口病的常见病原体,和连续监测手足口病的病因是必要的。
    Hand, foot and mouth disease (HFMD) was one of the most common infectious disease in the past few decades. After 2013, coxsackievirus A6 (CVA6) has replaced enterovirus 71 (EV-A71) and coxsackievirus A16 (CVA16), becoming the predominant pathogen responsible for HFMD in many areas in China. The objective of this study is to investigate the genetic characteristics and molecular epidemiology of CVA6 in Linyi from 2022 to 2023. A total of 965 HFMD cases were enrolled in this study and analyses based on VP1 nucleotide sequences were performed to determine the evolutionary trajectory of CVA6. In 2022, 281 (281/386, 72.8%) were positive for enterovirus (EVs), and 217 (217/281, 77.2%) were CVA6 positive. In 2023, 398 (398/579, 68.7%) samples were positive for EVs, and 243 (243/398, 61.1%) were CVA6 positive. Six sequences were selected from each year for the homology analysis. The results showed that 12 strains isolated in Linyi were far from the prototype strain (AY421764) and the first CVA6 strain reported in China (JQ364886). Phylogenetic analysis showed that the CVA6 strains isolated in Linyi all belonged to D3 subgenotype. CVA6 is emerging as a common pathogen causing HFMD in Linyi, and continuous surveillance of HFMD etiological agents is necessary.
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  • 文章类型: Journal Article
    先天性代谢错误(IEM)并不常见。尽管一些研究已经探讨了新生儿中IEM的分布和特征,这些疾病对住院新生儿的影响尚不清楚.在这项研究中,我们收集了2017年1月至2022年12月在重庆医科大学儿童医院因各种疾病入院的21,840名新生儿患者的数据。液相色谱-串联质谱(LC-MS/MS),气相色谱-质谱(GC-MS/MS),和遗传分析被用来阐明疾病谱,发病率,住院新生儿IEM的遗传特征。结果显示,住院新生儿中IEM的发生率为1/377(58/21,840),足月婴儿(1/428)的发病率高于早产儿(1/3,120)。在诊断的遗传代谢疾病中,有机酸代谢紊乱(1/662),氨基酸代谢紊乱(1/950),和脂肪酸氧化紊乱(1/10,920)是最普遍的。甲基丙二酸血症(MMA),尤其是孤立的形式,成为最常见的IEM,而由citrin缺乏症(NICCD)和鸟氨酸转碳淀粉酶缺乏症(OTCD)引起的新生儿肝内胆汁淤积在早产儿中普遍存在。在58例确诊的IEM病例中,确定了72种变体,其中31.94%(23/72)以前没有报告过。这项研究有助于了解住院新生儿IEM的发生率和临床特征,为筛查和诊断这些疾病提供更有效的策略。
    Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,840 newborn patients admitted for various medical conditions at the Children\'s Hospital of Chongqing Medical University from January 2017 and December 2022. Liquid chromatography-tandem mass spectrometry (LC-MS/MS), gas chromatography-mass spectrometry (GC-MS/MS), and genetic analysis were used to elucidate the disease spectrum, incidence rate, and genetic characteristics of IEMs in hospitalized newborns. The results revealed that the incidence of IEMs in hospitalized newborns was 1/377 (58/21,840), with a higher incidence in full-term infants (1/428) than in premature infants (1/3,120). Among the diagnosed genetic metabolic diseases, organic acid metabolism disorders (1/662), amino acid metabolism disorders (1/950), and fatty acid oxidation disorders (1/10,920) were the most prevalent. Methylmalonic acidemia (MMA), especially the isolated form, emerged as the most common IEM, while neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and ornithine transcarbamylase deficiency (OTCD) were prevalent in premature infants. Of the 58 confirmed cases of IEMs, 72 variants were identified, of which 31.94% (23/72) had not been reported previously. This study contributes to understanding the incidence and clinical features of IEMs in hospitalized newborns, offering more efficient strategies for screening and diagnosing these disorders.
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  • 文章类型: Journal Article
    甘蔗,热带和亚热带地区的重要经济作物,贡献了世界上80%的糖产量和40%的生物乙醇产量。它是一种关键的糖料作物,占中国食糖产量的85%。开发高产新品种,高糖,良好的抗逆性对制糖行业的可持续增长至关重要。杂交育种是目前应用最广泛、最有效的方法,超过98%的中国甘蔗品种是由这种方法产生的。在过去的二十年里,我国育种家发展了高异质复合高糖育种理论,导致第五代甘蔗品种的成功选育。其中,YZ08-1609,糖果属的复杂杂种。,由云南省农业科学院甘蔗研究所(YSRI)开发。YZ08-1609的平均甘蔗产量比ROC22高14.4%。它对花叶病有很强的抵抗力,对干旱胁迫具有高度的耐受性,但中度易患黑穗病。值得注意的是,YZ08-1609的蔗糖含量为20.3%,创下国际纪录,赢得“糖之王”的美誉。总结经验,启发育种,我们在这里提供了父母选择的详细见解,育种过程,和YZ08-1609的特点。此外,在转录和代谢水平上都挖掘了其高产和高糖的生物学机制。还讨论了甘蔗品种选育的挑战和前景,尤其是高糖甘蔗品种的选育。为高糖品种的未来发展奠定了基础。
    Sugarcane, a significant cash crop in tropical and subtropical regions, contributes to 80% of sugar production and 40% of bioethanol production in the world. It is a key sugar crop, accounting for 85% of sugar production in China. Developing new varieties with high yield, high sugar, and better stress resistance is crucial for the sustainable growth of sugar industry. Hybrid breeding is the most widely used and effective method, with over 98% of Chinese sugarcane varieties resulting from this approach. Over the past two decades, Chinese breeders have developed the theory of high-heterogeneous composite high-sugar breeding, leading to the successful breeding of the fifth-generation sugarcane varieties. Among them, YZ08-1609, a complex hybrid of Saccharum spp., was developed by Sugarcane Research Institute (YSRI) of Yunnan Academy of Agricultural Sciences. The average cane yield of YZ08-1609 was 14.4% higher than ROC22. It is highly resistant to mosaic disease, and highly tolerant to drought stress, but moderately susceptible to smut disease. Notably, YZ08-1609 stands out with a sucrose content of 20.3%, setting an international record, earning the reputation as \"King of Sugar\". To summarize experience and inspire breeding, we provided here the detailed insights into the selection of parents, breeding process, and characteristics of YZ08-1609. Besides, the biological mechanisms underlying its high yield and high sugar was excavated at both transcriptional and metabolic levels. The challenges and prospects in breeding sugarcane varieties especially with high sugar were also discussed, offering a foundation for the future development of high-sugar varieties.
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  • 文章类型: Journal Article
    化生性乳腺癌是一种罕见的,侵略性,和化疗耐药的乳腺癌亚型,占不到1%的浸润性乳腺癌,以腺癌与梭形细胞为特征,鳞状上皮,和/或间充质组织分化。大多数化生乳腺癌表现出三阴性乳腺癌的特征,并且预后不良,生存率较低。这种亚型通常在PI3K/AKT途径中显示基因改变,Wnt/β-catenin通路,和细胞周期失调,并证明上皮-间质转化,免疫反应的变化,TP53突变,EGFR扩增,等等。目前,化生性乳腺癌的最佳治疗仍不确定.本文对其临床特征进行了全面的综述,分子特征,侵袭和转移模式,和化生性乳腺癌的预后,以及治疗策略的最新进展。
    Metaplastic breast cancer is a rare, aggressive, and chemotherapy-resistant subtype of breast cancers, accounting for less than 1% of invasive breast cancers, characterized by adenocarcinoma with spindle cells, squamous epithelium, and/or mesenchymal tissue differentiation. The majority of metaplastic breast cancers exhibit the characteristics of triple-negative breast cancer and have unfavorable prognoses with a lower survival rate. This subtype often displays gene alterations in the PI3K/AKT pathway, Wnt/β-catenin pathway, and cell cycle dysregulation and demonstrates epithelial-mesenchymal transition, immune response changes, TP53 mutation, EGFR amplification, and so on. Currently, the optimal treatment of metaplastic breast cancer remains uncertain. This article provides a comprehensive review on the clinical features, molecular characteristics, invasion and metastasis patterns, and prognosis of metaplastic breast cancer, as well as recent advancements in treatment strategies.
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  • 文章类型: Journal Article
    背景:比较正常新生儿和遗传代谢疾病高危儿童之间的差异。疾病概况包括氨基酸血症,脂肪酸氧化紊乱,和有机酸血症。
    方法:收集2010年12月至2020年12月上海高危人群新生儿和儿童的数据。
    结果:对232,561名新生儿进行了器质性疾病筛查,氨基酸,和脂肪酸代谢。初始阳性率为0.66%(1,526/232,561),阳性召回率为77.85%。阳性预测值为4.71%。其中,56例诊断为代谢异常。总发病率为1:4153。高苯丙氨酸血症和短链酰基辅酶A脱氢酶是新生儿最常见的疾病。此外,在56名儿童中,39例(69.42%)通过基因测序诊断。已经观察到14个IEM中的一些热点突变,包括PAH基因c.728G>A,c.611A>G,和ACADS基因c。1031A>G,c.164C>T.总共筛选了49,860名有症状的患者,其中185例被诊断为IEM,检出率为0.37%。高危婴儿中最常见的诊断疾病是甲基丙二酸血症和高苯丙氨酸血症。
    结论:与新生儿筛查相比,通过串联质谱法诊断的先天性代谢错误的临床病例更多。疾病谱,患病率,正常新生儿和高危儿童的遗传特征有很大不同。
    BACKGROUND: Compare the differences between normal newborns and high-risk children with inherited metabolic diseases. The disease profile includes amino acidemias, fatty acid oxidation disorders, and organic acidemias.
    METHODS: Data was collected on newborns and children from high-risk populations in Shanghai from December 2010 to December 2020.
    RESULTS: 232,561 newborns were screened for disorders of organic, amino acid, and fatty acid metabolism. The initial positive rate was 0.66 % (1,526/232,561) and the positive recall rate was 77.85 %. The positive predictive value is 4.71 %. Among them, 56 cases were diagnosed as metabolic abnormalities. The total incidence rate is 1:4153. Hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase are the most common diseases in newborns. In addition, in 56 children, 39 (69.42 %) were diagnosed by genetic sequencing. Some hotspot mutations in 14 IEMs have been observed, including PAH gene c.728G > A, c.611A > G, and ACADS gene c. 1031A > G, c.164C > T. A total of 49,860 symptomatic patients were screened, of which 185 were diagnosed with IEM, with a detection rate of 0.37 %. The most commonly diagnosed diseases in high-risk infants aremethylmalonic acidemia and hyperphenylalaninemia.
    CONCLUSIONS: There are more clinical cases of congenital metabolic errors diagnosed by tandem mass spectrometry than newborn screening. The spectrum of diseases, prevalence, and genetic characteristics of normal newborns and high-risk children are quite different.
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