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Application of next-generation sequencing technology to precision medicine in cancer: joint consensus of the Tumor Biomarker Committee of the Chinese Society of Clinical Oncology 被引量:17
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作者 Xuchao Zhang Zhiyong Liang +47 位作者 Shengyue Wang Shun Lu Yong Song Ying Cheng Jianming Ying Weiping Liu Yingyong Hou Yangqiu Li Yi Liu Jun Hou Xiufeng Liu Jianyong Shao Yanhong Tai Zheng Wang Li Fu Hui Li Xiaojun Zhou Hua Bai Mengzhao Wang You Lu Jinji Yang Wenzhao Zhong Qing Zhou Xuening Yang Jie Wang Cheng Huang Xiaoqing Liu Xiaoyan Zhou Shirong Zhang Hongxia Tian Yu Chen Ruibao Ren Ning Liao Chunyan Wu Zhongzheng Zhu Hongming Pan Yanhong Gu Liwei Wang Yunpeng Liu Suzhan Zhang Tianshu Liu Gong Chen Zhimin Shao Binghe Xu Qingyuan Zhang Ruihua Xu Lin Shen Yilong Wu 《Cancer Biology & Medicine》 SCIE CAS CSCD 2019年第1期189-204,共16页
Next-generation sequencing(NGS) technology is capable of sequencing millions or billions of DNA molecules simultaneously.Therefore, it represents a promising tool for the analysis of molecular targets for the initial ... Next-generation sequencing(NGS) technology is capable of sequencing millions or billions of DNA molecules simultaneously.Therefore, it represents a promising tool for the analysis of molecular targets for the initial diagnosis of disease, monitoring of disease progression, and identifying the mechanism of drug resistance. On behalf of the Tumor Biomarker Committee of the Chinese Society of Clinical Oncology(CSCO) and the China Actionable Genome Consortium(CAGC), the present expert group hereby proposes advisory guidelines on clinical applications of NGS technology for the analysis of cancer driver genes for precision cancer therapy. This group comprises an assembly of laboratory cancer geneticists, clinical oncologists, bioinformaticians,pathologists, and other professionals. After multiple rounds of discussions and revisions, the expert group has reached a preliminary consensus on the need of NGS in clinical diagnosis, its regulation, and compliance standards in clinical sample collection. Moreover, it has prepared NGS criteria, the sequencing standard operation procedure(SOP), data analysis, report, and NGS platform certification and validation. 展开更多
关键词 Next-generation sequencing technology CANCER consensus
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Application of Nanopore Sequencing Technology in the Clinical Diagnosis of Infectious Diseases 被引量:12
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作者 ZHANG Lu Lu ZHANG Chi PENG Jun Ping 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2022年第5期381-392,共12页
Infectious diseases are an enormous public health burden and a growing threat to human health worldwide.Emerging or classic recurrent pathogens,or pathogens with resistant traits,challenge our ability to diagnose and ... Infectious diseases are an enormous public health burden and a growing threat to human health worldwide.Emerging or classic recurrent pathogens,or pathogens with resistant traits,challenge our ability to diagnose and control infectious diseases.Nanopore sequencing technology has the potential to enhance our ability to diagnose,interrogate,and track infectious diseases due to the unrestricted read length and system portability.This review focuses on the application of nanopore sequencing technology in the clinical diagnosis of infectious diseases and includes the following:(i)a brief introduction to nanopore sequencing technology and Oxford Nanopore Technologies(ONT)sequencing platforms;(ii)strategies for nanopore-based sequencing technologies;and(iii)applications of nanopore sequencing technology in monitoring emerging pathogenic microorganisms,molecular detection of clinically relevant drug-resistance genes,and characterization of disease-related microbial communities.Finally,we discuss the current challenges,potential opportunities,and future outlook for applying nanopore sequencing technology in the diagnosis of infectious diseases. 展开更多
关键词 Nanopore sequencing Infectious diseases PATHOGEN Oxford Nanopore technologies
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Transcriptome Sequencing and de novo Analysis for Oviductus Ranae of Rana chensinensis Using Illumina RNA-Seq Technology 被引量:7
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作者 Mei Zhang Yuntong Li +3 位作者 Baojin Yao Minying Sun Zhiwu Wang Yu Zhao 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2013年第3期137-140,共4页
Oviductus Ranae is the dried oviduct of female Rana tem-poraria chensinensis (David), distributed mainly in North- eastern China. Oviductus Ranae is one of the best-known and highly valued oriental foods and medicin... Oviductus Ranae is the dried oviduct of female Rana tem-poraria chensinensis (David), distributed mainly in North- eastern China. Oviductus Ranae is one of the best-known and highly valued oriental foods and medicines. Traditional Chinese medicine holds that Oviductus Ranae can nourish yin, moisten lung and replenish the kidney essence. Meanwhile, activities of Oviductus Ranae such as anti-aging, anti-lipemic, anti-oxidation and anti-fatigue have also been demonstrated by modern phar-macological studies. Previous studies have shown that Oviductus Ranae is mainly composed of proteins, which are up to 50% or more. 展开更多
关键词 Transcriptome sequencing and de novo Analysis for Oviductus Ranae of Rana chensinensis Using Illumina RNA-Seq technology RNA
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Diagnosis and treatment of refractory infectious diseases using nanopore sequencing technology:Three case reports 被引量:1
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作者 Qing-Mei Deng Jian Zhang +5 位作者 Yi-Yong Zhang Min Jia Du-Shan Ding Yu-Qin Fang Hong-Zhi Wang Hong-Cang Gu 《World Journal of Clinical Cases》 SCIE 2024年第22期5208-5216,共9页
BACKGROUND Infectious diseases are still one of the greatest threats to human health,and the etiology of 20%of cases of clinical fever is unknown;therefore,rapid identification of pathogens is highly important.Traditi... BACKGROUND Infectious diseases are still one of the greatest threats to human health,and the etiology of 20%of cases of clinical fever is unknown;therefore,rapid identification of pathogens is highly important.Traditional culture methods are only able to detect a limited number of pathogens and are time-consuming;serologic detection has window periods,false-positive and false-negative problems;and nucleic acid molecular detection methods can detect several known pathogens only once.Three-generation nanopore sequencing technology provides new options for identifying pathogens.CASE SUMMARY Case 1:The patient was admitted to the hospital with abdominal pain for three days and cessation of defecation for five days,accompanied by cough and sputum.Nanopore sequencing of the drainage fluid revealed the presence of orallike bacteria,leading to a clinical diagnosis of bronchopleural fistula.Cefoperazone sodium sulbactam treatment was effective.Case 2:The patient was admitted to the hospital with fever and headache,and CT revealed lung inflammation.Antibiotic treatment for Streptococcus pneumoniae,identified through nanopore sequencing of cerebrospinal fluid,was effective.Case 3:The patient was admitted to our hospital with intermittent fever and an enlarged neck mass that had persisted for more than six months.Despite antibacterial treatment,her symptoms worsened.The nanopore sequencing results indicate that voriconazole treatment is effective for Aspergillus brookii.The patient was diagnosed with mixed cell type classical Hodgkin's lymphoma with infection.CONCLUSION Three-generation nanopore sequencing technology allows for rapid and accurate detection of pathogens in human infectious diseases. 展开更多
关键词 Nanopore sequencing technology Third-generation sequencing technology INFECTION PATHOGEN Case report
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Surveillance of emerging SARS-CoV-2 variants by nanopore technology-based genome sequencing 被引量:1
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作者 J.I.Abeynayake G.P.Chathuranga +1 位作者 M.A.Y.Fernando M.K.Sahoo 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2023年第7期313-320,共8页
Objective:To surveill emerging variants by nanopore technology-based genome sequencing in different COVID-19 waves in Sri Lanka and to examine the association with the sample characteristics,and vaccination status.Met... Objective:To surveill emerging variants by nanopore technology-based genome sequencing in different COVID-19 waves in Sri Lanka and to examine the association with the sample characteristics,and vaccination status.Methods:The study analyzed 207 RNA positive swab samples received to sequence laboratory during different waves.The N gene cut-off threshold of less than 30 was considered as the major inclusion criteria.Viral RNA was extracted,and elutes were subjected to nanopore sequencing.All the sequencing data were uploaded in the publicly accessible database,GISAID.Results:The Omicron,Delta and Alpha variants accounted for 58%,22%and 4%of the variants throughout the period.Less than 1%were Kappa variant and 16%of the study samples remained unassigned.Omicron variant was circulated among all age groups and in all the provinces.Ct value and variants assigned percentage was 100%in Ct values of 10-15 while only 45%assigned Ct value over 25.Conclusions:The present study examined the emergence,prevalence,and distribution of SARS-CoV-2 variants locally and has shown that nanopore technology-based genome sequencing enables whole genome sequencing in a low resource setting country. 展开更多
关键词 Emerging SARS-CoV-2 variants Laboratory surveillance Nanopore technology Genome sequencing Bioinformatics analysis and phylogeny Sociodemographic and sample cutoff(Ct)threshold Global sharing of genomic data/GISAID
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Clinical applications of metagenomics next-generation sequencing in infectious diseases 被引量:7
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作者 Ying LIU Yongjun MA 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2024年第6期471-484,共14页
Infectious diseases are a great threat to human health.Rapid and accurate detection of pathogens is important in the diagnosis and treatment of infectious diseases.Metagenomics next-generation sequencing(mNGS)is an un... Infectious diseases are a great threat to human health.Rapid and accurate detection of pathogens is important in the diagnosis and treatment of infectious diseases.Metagenomics next-generation sequencing(mNGS)is an unbiased and comprehensive approach for detecting all RNA and DNA in a sample.With the development of sequencing and bioinformatics technologies,mNGS is moving from research to clinical application,which opens a new avenue for pathogen detection.Numerous studies have revealed good potential for the clinical application of mNGS in infectious diseases,especially in difficult-to-detect,rare,and novel pathogens.However,there are several hurdles in the clinical application of mNGS,such as:(1)lack of universal workflow validation and quality assurance;(2)insensitivity to high-host background and low-biomass samples;and(3)lack of standardized instructions for mass data analysis and report interpretation.Therefore,a complete understanding of this new technology will help promote the clinical application of mNGS to infectious diseases.This review briefly introduces the history of next-generation sequencing,mainstream sequencing platforms,and mNGS workflow,and discusses the clinical applications of mNGS to infectious diseases and its advantages and disadvantages. 展开更多
关键词 Metagenomics next-generation sequencing(mNGS) Infectious disease Cerebrospinal fluid(CSF) Oxford Nanopore technologies(ONT) MICROBIOME
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Transcriptome sequencing-based study on the mechanism of action of Jintiange capsules(金天格胶囊)in regulating synovial mesenchymal stem cells exosomal miRNA and articular chondrocytes mRNA for the treatment of osteoarthritis 被引量:3
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作者 CHEN Zhongying ZHANG Xue +3 位作者 ZHANG Xiaofei ZOU Junbo YUAN Puwei SHI Yajun 《Journal of Traditional Chinese Medicine》 SCIE CSCD 2024年第6期1153-1167,共15页
OBJECTIVE: To corroborate the efficacy of Jintiange capsules(JTGs)( 金天格胶囊) in the treatment of osteoarthritis(OA) by exploring the potential mechanism of action of synovial mesenchymal stem cell exosomes(SMSC-Exo... OBJECTIVE: To corroborate the efficacy of Jintiange capsules(JTGs)( 金天格胶囊) in the treatment of osteoarthritis(OA) by exploring the potential mechanism of action of synovial mesenchymal stem cell exosomes(SMSC-Exos) and articular chondrocytes(ACs) through transcriptome sequencing(RNA-seq). METHODS: Type Ⅱ collagenase was used to induce OA in rats. The efficacy of JTGs was confirmed by macroscopic observation of articular cartilage, micro-CT observation, and safranin fast green staining. After SMSC-Exos and ACs were qualified, RNA-seq was used to screen differentially expressed mi RNAs and m RNAs. The target genes of differentially expressed mi RNAs in Synovial mesenchymal stem cells(SMSCs) were predicted based on the multi Mi R R package. The codifferentially expressed genes of SMSC-Exos and ACs were obtained by venny 2.1.0. The mi RNA-m RNA regulatory network was constructed by Cytoscape software. Based on the Omic Share platform, Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analysis was performed on the m RNA regulated by key mi RNAs. Expression trend analysis was performed for co-differentially expressed genes. Correlation analysis was performed on micro-CT efficacy indicators, co-differentially expressed genes mRNA and miRNA. RESULTS: The efficacy of each administration group of JTGs was significant compared with the model group. SMSC-Exos and ACs were identified by their characteristics. The expression of rno-mi R-23a-3p, rnomi R-342-3p, rno-miR-146b-5p, rno-miR-501-3p, rnomiR-214-3p was down-regulated in OA pathological state, and the expression of rno-mi R-222-3p, rno-mi R-30e-3p, rno-mi R-676, and rno-miR-192-5p expression was upregulated, and the expression of all these mi RNAs was reversed after the intervention with JTGs containing serum. The co-differentially expressed genes were enriched in the interleukin 17 signaling pathway, tumor necrosis factor signaling pathway, transforming growth factor-β signaling pathway, etc. The expression trends of Ccl7, Akap12, Grem2, Egln3, Arhgdib, Ccl20, Mmp12, Pla2g2a, and Nr4a1 were significant. There was a correlation between micro-CT pharmacodynamic index, m RNA, and mi RNA. CONCLUSION: JTGs can improve the degeneration of joint cartilage and achieve the purpose of cartilage protection, which can be used for the treatment of OA. SMSCs-related mi RNA expression profiles were significantly altered after the intervention with JTGs containing serum. The 9 co-differentially expressed genes may be the key targets for the efficacy of JTGs in the treatment of OA rats, which can be used for subsequent validation. 展开更多
关键词 transcriptome sequencing technology OSTEOARTHRITIS Jintiange capsules synovial mesenchymal stem cells articular chondrocytes
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Current status and future perspectives for sequencing livestock genomes 被引量:1
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作者 Yongsheng Bai Maureen Sartor James Cavalcoli 《Journal of Animal Science and Biotechnology》 SCIE CAS 2012年第1期10-15,共6页
Only in recent years, the draft sequences for several agricultural animals have been assembled. Assembling an individual animal's entire genome sequence or specific region(s) of interest is increasingly important f... Only in recent years, the draft sequences for several agricultural animals have been assembled. Assembling an individual animal's entire genome sequence or specific region(s) of interest is increasingly important for agricultura researchers to perform genetic comparisons between animals with different performance. We review the current status for several sequenced agricultural species and suggest that next generation sequencing (NGS) technology with decreased sequencing cost and increased speed of sequencing can benefit agricultural researchers. By taking advantage of advanced NGS technologies, genes and chromosomal regions that are more labile to the influence of environmental factors could be pinpointed. A more long term goal would be addressing the question of how animals respond at the molecular and cellular levels to different environmental models (e.g. nutrition). Upon revealing important genes and gene-environment interactions, the rate of genetic improvement can also be accelerated. It is clear that NGS technologies will be able to assist animal scientists to efficiently raise animals and to better prevent infectious diseases so that overall costs of animal production can be decreased. 展开更多
关键词 livestock genomes next-generation sequencing technology NUTRITION
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HITAC-seq enables high-throughput cost-effective sequencing of plasmids and DNA fragments with identity 被引量:1
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作者 Xiang Gao Weipeng Mo +11 位作者 Junpeng Shi Ning Song Pei Liang Jian Chen Yiting Shi Weilong Guo Xinchen Li Xiaohong Yang Beibei Xin Haiming Zhao Weibin Song Jinsheng Lai 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2021年第8期671-680,共10页
DNA sequencing is vital for many aspects of biological research and diagnostics. Despite the development of second and third generation sequencing technologies, Sanger sequencing has long been the only choice when req... DNA sequencing is vital for many aspects of biological research and diagnostics. Despite the development of second and third generation sequencing technologies, Sanger sequencing has long been the only choice when required to precisely track each sequenced plasmids or DNA fragments. Here, we report a complete set of novel barcoding and assembling system, Highly-parallel Indexed Tagmentation-reads Assembled Consensus sequencing(HITAC-seq), that could massively sequence and track the identities of each individual sequencing sample. With the cost of much less than that of single read of Sanger sequencing,HITAC-seq can generate high-quality contiguous sequences of up to 10 kilobases or longer. The capability of HITAC-seq was confirmed through large-scale sequencing of thousands of plasmid clones and hundreds of amplicon fragments using approximately 100 pg of input DNAs. Due to its long synthetic length, HITACseq was effective in detecting relatively large structural variations, as demonstrated by the identification of a~1.3 kb Copia retrotransposon insertion in the upstream of a likely maize domestication gene. Besides being a practical alternative to traditional Sanger sequencing, HITAC-seq is suitable for many highthroughput sequencing and genotyping applications. 展开更多
关键词 HITAC-seq Structure variation sequencing technology Sanger sequencing Comparative genomics
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A KIND OF PAPR REDUCTION METHOD BASED ON PRUNING WPM AND PTS TECHNOLOGY
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作者 Huang Xian Tan Gewei +2 位作者 Xu Qingyong Xu Ning Wang Shuangxi 《Journal of Electronics(China)》 2013年第3期261-267,共7页
Wavelet packet multicarrier system gains widespread concern because of its better resistance performance to Inter-Symbol Interference (ISI) and Inter-Carrier Interference (ICI), as well as the higher spectrum efficien... Wavelet packet multicarrier system gains widespread concern because of its better resistance performance to Inter-Symbol Interference (ISI) and Inter-Carrier Interference (ICI), as well as the higher spectrum efficiency. However, multicarrier system has a high Peak to Average Power Ratio (PAPR), which will lead to many problems such as lower system performance. In order to solve the problem, a kind of PAPR reduction method based on pruning Wavelet Packet Modulation (WPM) and Partial Transmit Sequences (PTS) technology is proposed in this paper, through proper pruning of the full-tree structure of wavelet packet modulation in the PTS technology to reduce the number of nodes in the system, and finally improve the reduction effect of PAPR. Simulation results show that when Complementary Cumulative Distribution Function (CCDF) is 10 -3 , PTS based on pruning WPM compared with PTS technique and pruning technique has improved about 1 dB and 1.5 dB, which will not affect the system's Bit Error Rate (BER) performance in the wavelet packet multicarrier system. 展开更多
关键词 Multicarrier modulation Wavelet packet Pruning wavelet packet Peak to Average Power Ratio (PAPR) Partial Transmit sequences (PTS) technology
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Next-generation sequencing-based analysis of the effect of N^(6)-methyldeoxyadenosine modification on DNA replication in human cells
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作者 Juan Wang Yuwei Sheng +2 位作者 Ying Yang Xiaoxia Dai Changjun You 《Chinese Chemical Letters》 SCIE CAS CSCD 2022年第4期2077-2080,共4页
N^(6)-methyldeoxyadenosine(6 mdA) modification is considered as a new epigenetic mark that may play important roles in various biological processes.However,it remains unclear about the effect of 6 mdA on DNA replicati... N^(6)-methyldeoxyadenosine(6 mdA) modification is considered as a new epigenetic mark that may play important roles in various biological processes.However,it remains unclear about the effect of 6 mdA on DNA replication in human cells.Herein,we combined next-generation sequencing with shuttle vector technology to explore how 6 mdA affects the efficiency and accuracy of DNA replication in human cells.Our results showed that 6 mdA neither blocked DNA replication nor induced mutations in human cells.Moreover,we found that the depletion of translesion synthesis DNA polymerase(Pol) κ,Pol η,Pol ι or Pol ζ did not significantly change the biological consequences of 6 mdA during replication in human cells.The negligible impact of 6 mdA on DNA replication is consistent with its potential role in epigenetic gene expression. 展开更多
关键词 N^(6)-methyldeoxyadenosine DNA replication Next-generation sequencing Shuttle vector technology Translesion synthesis DNA polymerase
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Transcriptomics:from Technological Breakthrough to Disease Control Empowerment
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作者 Yong Zhang 《Biomedical and Environmental Sciences》 2025年第9期1029-1031,共3页
With the reduction of sequencing costs,optimization of algorithms,and improvement of multi-omics integration capabilities,transcriptomics,as a core technology for analyzing gene expression dynamics and discovering key... With the reduction of sequencing costs,optimization of algorithms,and improvement of multi-omics integration capabilities,transcriptomics,as a core technology for analyzing gene expression dynamics and discovering key functional molecules,has shown great potential in the field of disease prevention and control[1,2].The multi-continental transcriptomics study of tick-borne poxvirus not only provides a new perspective for understanding the evolution and transmission of vector-mediated viruses,but also reflects the trend of transcriptomics research and highlights its key role in disease prevention and control[3]. 展开更多
关键词 analyzing gene expression dynamics disease prevention control sequencing costs technological breakthrough algorithm optimization discovering key functional moleculeshas reduction sequencing costsoptimization algorithmsand gene expression dynamics
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纳米孔测序技术辅助二代测序技术确认新等位基因HLADRB1^(*)12:101
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作者 陈男英 董丽娜 +3 位作者 何亿镇 陈晨 李奇 朱发明 《浙江医学》 2026年第1期49-53,共5页
目的鉴定人类白细胞抗原(HLA)新等位基因HLA-DRB1,并分析其核苷酸序列。方法基于Ion Torrent S5平台二代测序技术(NGS)检测HLA基因分型,并利用基于纳米孔测序技术平台的三代测序技术(TGS)进行确认。结果样本经NGS检测,结果为HLA-A^(*)02... 目的鉴定人类白细胞抗原(HLA)新等位基因HLA-DRB1,并分析其核苷酸序列。方法基于Ion Torrent S5平台二代测序技术(NGS)检测HLA基因分型,并利用基于纳米孔测序技术平台的三代测序技术(TGS)进行确认。结果样本经NGS检测,结果为HLA-A^(*)02:01,11:01;-B^(*)15:02,40:01;-C^(*)08:01,14:02;-DRB1^(*)12:XX,15:01;-DRB3^(*)03:01;-DRB5^(*)01:01;-DQA1^(*)01:02,06:01;-DQB1^(*)03:01,06:02;-DPA1^(*)01:03,02:02;-DPB1^(*)05:01:01G,21:01:01G。其中HLA-DRB1^(*)12:XX存在碱基突变,TGS检测确认结果一致;它与HLA-DRB1^(*)12:02:01:01比,第6外显子788位碱基G>A,导致234位编码氨基酸由甘氨酸变为谷氨酸。新等位基因序列已提交至GenBank数据库(编号为OP459299),并于2022年10月31日被世界卫生组织HLA因子命名委员会正式命名为HLA-DRB1^(*)12:101。结论应用纳米孔测序技术辅助NGS成功确认了HLA-DRB1新等位基因,扩展了已知的HLA等位基因库,对HLA基因精准分型具有重要意义。 展开更多
关键词 人类白细胞抗原-DRB1 新等位基因 二代测序技术 纳米孔测序技术 三代测序技术
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胚胎植入前杜氏肌营养不良基因突变检测国家参考品的研制
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作者 于婷 戴毅 +1 位作者 黄杰 曲守方 《分子诊断与治疗杂志》 2026年第1期5-8,共4页
目的建立胚胎植入前杜氏肌营养不良基因(DMD)突变检测国家参考品。方法收集10个DMD家系全血样本,构建永生化的淋巴细胞系,对细胞系建立成功的36份样本扩增繁殖,并提取基因组DNA制备成候选国家参考品。5家实验室采用二代测序(NGS)试剂对... 目的建立胚胎植入前杜氏肌营养不良基因(DMD)突变检测国家参考品。方法收集10个DMD家系全血样本,构建永生化的淋巴细胞系,对细胞系建立成功的36份样本扩增繁殖,并提取基因组DNA制备成候选国家参考品。5家实验室采用二代测序(NGS)试剂对候选国家参考品进行了验证和家系分析。采用NGS试剂检测3套候选参考品评估均匀性,以及检测反复冻融3次后的候选参考品评估稳定性。同时,全部样本采用第三代测序技术进行了验证。结果验证结果基本一致,4个家系(编号:1、5、9和10)为新发突变,无法进行连锁分析,不适合作为国家参考品。剩余6个家系中,2个家系的候选胚胎不携带母源缺失突变,4个家系的候选胚胎携带母源点突变或重复突变。均匀性检测中,候选参考品的3次结果一致,候选参考品反复冻融3次后的检测结果与常规保存的检测结果一致。结论经联合验证以及均匀性、稳定性评价,成功建立了胚胎植入前DMD突变检测国家参考品,该参考品可用于该类检测试剂盒的性能评价。 展开更多
关键词 胚胎植入前基因检测 杜氏肌营养不良 高通量测序技术 第三代测序技术
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CNV-seq联合STR分型技术在早期自然流产物遗传学分析中的应用
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作者 金培芹 许阳 +1 位作者 熊英巧 彭新秀 《检验医学》 2026年第2期112-117,共6页
目的探讨基因组拷贝数变异测序(CNV-seq)和短串联重复序列(STR)分型联合检测在早期自然流产遗传学病因分析中的价值。方法选取2022年1月—2023年12月连云港市妇幼保健院自然流产患者529例。收集所有患者的流产物组织样本,采用CNV-Seq联... 目的探讨基因组拷贝数变异测序(CNV-seq)和短串联重复序列(STR)分型联合检测在早期自然流产遗传学病因分析中的价值。方法选取2022年1月—2023年12月连云港市妇幼保健院自然流产患者529例。收集所有患者的流产物组织样本,采用CNV-Seq联合STR分型检测染色体拷贝数变异(CNV)情况,对染色体非整倍体和>100 kb的CNV进行分析。对提示D、G组染色体和大片段CNV异常的流产物组织的生物学父母进行外周血G显带染色体核型分析。结果529例自然流产患者的流产物组织样本中检出322例染色体异常,其中染色体数目异常279例(染色体非整倍体异常240例、三倍体39例)、CNV异常43例(亚显微CNV 11例、大片段CNV 32例)。复发性CNV样本中有3例15q11.2微缺失综合征和2例16p11.2微缺失综合征均为家族性遗传,且父母均无明显临床表型。外周血染色体核型分析检出染色体平衡易位携带者6例、染色体罗氏易位携带者2例。结论CNV-seq联合STR分型检测可排除母源污染,检出三倍体异常,提高遗传学病因自然流产的整体检出率。对检出胚胎染色体存在D、G组非整倍体和大片段CNV异常的样本进行父母外周血染色体核型分析可以及时发现染色体平衡易位,为流产后临床管理和再生育提供指导,避免再次自然流产。 展开更多
关键词 拷贝数变异测序 短串联重复序列 核型分析 拷贝数变异 早期自然流产
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基于高通量测序技术的长江口刀鲚春季食性分析
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作者 王敏 黄晓荣 +4 位作者 冯广朋 宋超 刘若晖 孙金辉 崔培 《水生态学杂志》 北大核心 2026年第1期173-180,共8页
探究不同规格刀鲚(Coilia nasus)的食性特征及差异,为长江口刀鲚物种保护、资源增殖以及人工养殖提供参考。2023年5月在长江口水域设置10个站位采集刀鲚样品,利用高通量测序技术分析2种不同规格(以200 mm为临界点)刀鲚的食性特征,运用UP... 探究不同规格刀鲚(Coilia nasus)的食性特征及差异,为长江口刀鲚物种保护、资源增殖以及人工养殖提供参考。2023年5月在长江口水域设置10个站位采集刀鲚样品,利用高通量测序技术分析2种不同规格(以200 mm为临界点)刀鲚的食性特征,运用UPARSE软件进行OTU物种分类学注释并分析其群落组成,运用Mothur软件进行Alpha和Beta多样性分析。结果表明:小规格刀鲚(≤200 mm)摄食30种饵料生物,主要以浮游动物、浮游植物、虾类为食;大规格刀鲚(>200 mm)摄食12种饵料生物,主要以浮游动物、虾类、蟹类为食;2种不同规格刀鲚的饵料生物组成不存在显著性差异(P>0.05),胃部均存在大量宫脂属(Hysterothylacium)线虫。 展开更多
关键词 刀鲚 高通量测序技术 食性 长江口
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基于PacBio SMRT测序及纯培养技术揭示德州地区不同类型大曲细菌群落差异
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作者 崔梦君 郭壮 +3 位作者 杜新勇 王朝青 侯强川 王玉荣 《食品与发酵工业》 北大核心 2026年第3期196-205,共10页
中高温和高温大曲是影响浓香和酱香型白酒生产的关键因素,大曲中细菌的丰富度和多样性显著影响其风味品质的形成。该研究利用PacBio单分子实时(single molecule real-time,SMRT)测序和纯培养技术,对采集自德州地区的5份中高温和5份高温... 中高温和高温大曲是影响浓香和酱香型白酒生产的关键因素,大曲中细菌的丰富度和多样性显著影响其风味品质的形成。该研究利用PacBio单分子实时(single molecule real-time,SMRT)测序和纯培养技术,对采集自德州地区的5份中高温和5份高温大曲样品细菌群落的差异进行了分析。α和β多样性分析结果显示,两者细菌群落结构存在显著差异(P<0.01),且中高温大曲具有更高的细菌群落丰富度和多样性(P<0.05)。群落组成分析结果显示,中高温大曲共检测出8个优势细菌种,以鸡葡萄球菌(Staphylococcus gallinarum,24.70%)为主,高温大曲共检测出7个优势细菌种,以血液克罗彭施泰特氏菌(Kroppenstedtia sanguinis,26.39%)为主。线性判别分析(linear discriminant analysis effect size,LEfSe)结果显示,Arboricoccus pini和K.sanguinis可分别作为纳入该研究中高温和高温大曲的生物标志物。共现性网络分析结果显示,中高温大曲细菌群落间复杂程度更高,稳定性更强。直系同源蛋白数据库(clusters of orthologous groups of proteins,COG)和代谢通路预测结果显示,中高温大曲组在染色体结构与动力学、细胞壁/膜/质膜形成等5个功能基因的表达更为显著(P<0.05),高温大曲组在氨基酸和碳水化合物转运与代谢方面表达更为显著(P<0.05)。可培养细菌分析结果显示,中高温和高温大曲优势可培养细菌分别为S.gallinarum(26.47%)和地衣芽孢杆菌(Bacillus licheniformis,50.00%)。该研究结果为不同类型大曲微生物群落结构研究提供一定数据支撑。 展开更多
关键词 中高温大曲 高温大曲 PacBio SMRT测序技术 纯培养技术 细菌群落
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不同连栽代次桉树人工林土壤微生物群落结构及多样性研究
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作者 熊珊 杨德明 +4 位作者 王忠林 赵俊 李光友 陈文平 陆钊华 《中南林业科技大学学报》 北大核心 2026年第2期54-69,共16页
【目的】为探究多代连栽过程中桉树人工林土壤微生物群落的变化规律及其影响因素。【方法】采用高通量测序技术对雷州半岛4个连栽代次尾巨桉人工林土壤细菌、真菌群落结构及多样性进行分析,同时测定土壤化学性质,阐明微生物群落与环境... 【目的】为探究多代连栽过程中桉树人工林土壤微生物群落的变化规律及其影响因素。【方法】采用高通量测序技术对雷州半岛4个连栽代次尾巨桉人工林土壤细菌、真菌群落结构及多样性进行分析,同时测定土壤化学性质,阐明微生物群落与环境因子的相关性。【结果】1)除第2代林(G2)在40~80 cm土层的真菌Ace指数、Chao1指数和Shannon指数显著高于其他代次林分外,连栽并未对土壤微生物Alpha多样性造成显著影响,但土壤微生物群落结构发生了显著变化;2)不同代次桉树人工林优势菌门组成相同,假单胞菌门Pseudomonadota、酸杆菌门Acidobacteriota、绿弯菌门Chloroflexi和放线菌门Actinomycetota为优势细菌门类,担子菌门Basidiomycota和子囊菌门Ascomycota为优势真菌门类。在0~40 cm土层,随着连栽代次的增加,土壤细菌Candidatus_Eremiobacterota的相对丰度极显著升高,而拟杆菌门Bacteroidota的相对丰度显著降低;土壤真菌子囊菌门Ascomycota的相对丰度显著降低,担子菌门Basidiomycota的相对丰度先降低再升高,且各代次间存在显著差异;3)相关性分析和冗余分析结果表明,土壤pH值、碱解氮(AN)、有效磷(AP)和有效硼(AB)含量是驱动土壤微生物群落结构和多样性变化的关键环境因子;4)偏最小二乘路径模型(PLS-PM)结果表明,多代连栽对土壤化学性质存在极显著的直接负效应,并进一步通过直接或间接作用对土壤细菌和真菌群落组成、结构及多样性产生显著影响。【结论】本研究揭示了不同连栽代次桉树人工林土壤微生物群落结构和多样性的演变规律,可为人工林土壤改良和可持续经营提供理论依据。 展开更多
关键词 桉树人工林 多代连栽 土壤微生物群落结构 土壤化学性质 高通量测序
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6种药用菊花性状比较及亳菊psbA-trnH序列鉴别
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作者 刘凯 赵梦茹 +4 位作者 申亚楠 高俊山 李大辉 周修腾 周雪娟 《安徽农业科学》 2026年第1期95-99,共5页
[目的]收集6种药用菊花样品,通过性状比较、DNA条形码技术分析6种药用菊花psbA-trnH序列,从性状及分子水平上鉴别亳菊与其他药用菊花。[方法]收集亳菊、大马牙、贡菊、怀黄菊、祁菊、杭白菊鲜花及其叶片样品,通过比较花朵和叶片的特点,... [目的]收集6种药用菊花样品,通过性状比较、DNA条形码技术分析6种药用菊花psbA-trnH序列,从性状及分子水平上鉴别亳菊与其他药用菊花。[方法]收集亳菊、大马牙、贡菊、怀黄菊、祁菊、杭白菊鲜花及其叶片样品,通过比较花朵和叶片的特点,区分不同药用菊花的性状;收集的花朵和叶片样本,采用试剂盒法提取DNA,扩增psbA-trnH序列并进行Sanger测序,使用DNAMAN 8.0进行序列比对分析,利用MEGA 11.0进行进化树构建,对比亳菊与其他药用菊花psbA-trnH序列的差异。[结果]不同药用菊花的花、叶具有自身品种显著特点,花冠大小、舌状花形状、花朵颜色、叶片形状等均有显著差异,鲜花可以显著区分,但菊花干燥缩水后,亳菊、祁菊、贡菊、怀黄菊外形相似,干花很难区分;比对6种药用菊花的psbA-trnH序列,结果显示亳菊在443 bp长度范围内存在3个变异位点,分别位于235 bp位点(C-T)、288 bp位点(A-T)、336 bp位点(A-G);NJ树显示亳菊能单独聚到一类,可与其他药用菊花区分。[结论]psbA-trnH序列可以鉴别亳菊与大马牙、贡菊、怀黄菊、祁菊、杭白菊。 展开更多
关键词 亳菊 药用菊花 psbA-trnH序列 物种鉴别 DNA条形码技术
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连翘-金银花药对调控血清外泌体miRNA对急性肺损伤的改善作用及机制研究
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作者 陈朝华 谢淑敏 +5 位作者 常万顺 韩雨晴 陈艳雯 朱艳慧 曹明卓 黄海英 《中国药房》 北大核心 2026年第3期305-310,共6页
目的基于血清外泌体微RNA(miRNA),研究连翘-金银花药对对急性肺损伤(ALI)的改善作用及机制。方法将大鼠分为空白组(生理盐水)、模型组(生理盐水)、连翘-金银花药对组(2.55 g/kg),每组10只。除空白组外,其余各组大鼠均通过气管滴注5 mg/m... 目的基于血清外泌体微RNA(miRNA),研究连翘-金银花药对对急性肺损伤(ALI)的改善作用及机制。方法将大鼠分为空白组(生理盐水)、模型组(生理盐水)、连翘-金银花药对组(2.55 g/kg),每组10只。除空白组外,其余各组大鼠均通过气管滴注5 mg/mL脂多糖复制ALI模型。造模后,各组大鼠灌胃相应药液/生理盐水,每天1次,连续3 d。末次给药后,观察大鼠肺组织病理学形态;测定肺组织湿干重比和支气管肺泡灌洗液(BALF)中白细胞数量;检测BALF中炎症因子[肿瘤坏死因子α(TNF-α)、白细胞介素1β(IL-1β)、IL-10]水平;提取大鼠血清外泌体,利用高通量测序技术筛选外泌体中差异表达miRNA,并进行京都基因与基因组百科全书(KEGG)富集分析。基于筛选的差异表达miRNA和富集的KEGG通路,通过体外细胞实验进行机制验证。结果动物实验结果显示,经连翘-金银花药对干预后,ALI大鼠湿干重比以及BALF中白细胞数量和TNF-α、IL-1β水平均显著降低/减少(P<0.01),IL-10水平显著升高(P<0.01)。高通量测序实验结果显示,连翘-金银花药对可显著上调外泌体中miR-345-3p、miR-194-5p、miR-653-5p等的表达,其中差异表达miRNA的靶基因涉及的KEGG通路包括缺氧诱导因子1(HIF-1)信号通路等。细胞验证实验结果显示,过表达的miR-345-3p可显著升高细胞上清液中IL-10水平(P<0.01),显著降低细胞上清液中TNF-α、IL-1β水平以及细胞中蛋白激酶B1、磷脂酰肌醇3-激酶、HIF-1α的mRNA及其蛋白表达水平(P<0.01)。结论连翘-金银花药对可通过上调血清外泌体中miR-345-3p表达,抑制HIF-1信号通路活性,从而减轻炎症反应,进而发挥改善ALI的作用。 展开更多
关键词 连翘-金银花药对 急性肺损伤 外泌体 miR-345-3p HIF-1信号通路 高通量测序技术
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