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Inferring Mycobacterium Tuberculosis Drug Resistance and Transmission using Whole-genome Sequencing in a High TB-burden Setting in China
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作者 FAN Yu Feng LIU Dong Xin +11 位作者 CHEN Yi Wang OU Xi Chao MAO Qi Zhi YANG Ting Ting WANG Xi Jiang HE Wen Cong ZHAO Bing LIU Zhen Jiang ABULIMITI Maiweilanjiang AIHEMUTI Maimaitiaili GAO Qian ZHAO Yan Lin 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2024年第2期157-169,共13页
Objective China is among the 30 countries with a high burden of tuberculosis(TB)worldwide,and TB remains a public health concern.Kashgar Prefecture in the southern Xinjiang Autonomous Region is considered as one of th... Objective China is among the 30 countries with a high burden of tuberculosis(TB)worldwide,and TB remains a public health concern.Kashgar Prefecture in the southern Xinjiang Autonomous Region is considered as one of the highest TB burden regions in China.However,molecular epidemiological studies of Kashgar are lacking.Methods A population-based retrospective study was conducted using whole-genome sequencing(WGS)to determine the characteristics of drug resistance and the transmission patterns.Results A total of 1,668 isolates collected in 2020 were classified into lineages 2(46.0%),3(27.5%),and 4(26.5%).The drug resistance rates revealed by WGS showed that the top three drugs in terms of the resistance rate were isoniazid(7.4%,124/1,668),streptomycin(6.0%,100/1,668),and rifampicin(3.3%,55/1,668).The rate of rifampicin resistance was 1.8%(23/1,290)in the new cases and 9.4%(32/340)in the previously treated cases.Known resistance mutations were detected more frequently in lineage 2 strains than in lineage 3 or 4 strains,respectively:18.6%vs.8.7 or 9%,P<0.001.The estimated proportion of recent transmissions was 25.9%(432/1,668).Multivariate logistic analyses indicated that sex,age,occupation,lineage,and drug resistance were the risk factors for recent transmission.Despite the low rate of drug resistance,drug-resistant strains had a higher risk of recent transmission than the susceptible strains(adjusted odds ratio,1.414;95%CI,1.023–1.954;P=0.036).Among all patients with drug-resistant tuberculosis(DR-TB),78.4%(171/218)were attributed to the transmission of DR-TB strains.Conclusion Our results suggest that drug-resistant strains are more transmissible than susceptible strains and that transmission is the major driving force of the current DR-TB epidemic in Kashgar. 展开更多
关键词 Mycobacterium tuberculosis whole-genome sequencing(wgs) Transmission Drug resistance XINJIANG
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Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing 被引量:1
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作者 Xiangyu Yang Yafei Mao +11 位作者 Xuan-Kai Wang Dong-Ni Ma Zhen Xu Neng Gong Barbara Henning Xu Zhang Guang He Yong-Yong Shi Evan EEichler Zhi-Qiang Li Eiki Takahashi Wei-Dong Li 《Zoological Research》 SCIE CSCD 2023年第5期837-847,共11页
The common marmoset(Callithrix jacchus)has emerged as a valuable nonhuman primate model in biomedical research with the recent release of high-quality reference genome assemblies.Epileptic marmosets have been independ... The common marmoset(Callithrix jacchus)has emerged as a valuable nonhuman primate model in biomedical research with the recent release of high-quality reference genome assemblies.Epileptic marmosets have been independently reported in two Asian primate research centers.Nevertheless,the population genetics within these primate centers and the specific genetic variants associated with epilepsy in marmosets have not yet been elucidated.Here,we characterized the genetic relationships and risk variants for epilepsy in 41 samples from two epileptic marmoset pedigrees using whole-genome sequencing.We identified 14558184 single nucleotide polymorphisms(SNPs)from the 41 samples and found higher chimerism levels in blood samples than in fingernail samples.Genetic analysis showed fourth-degree of relatedness among marmosets at the primate centers.In addition,SNP and copy number variation(CNV)analyses suggested that the WW domain-containing oxidoreductase(WWOX)and Tyrosine-protein phosphatase nonreceptor type 21(PTPN21)genes may be associated with epilepsy in marmosets.Notably,KCTD18-like gene deletion was more common in epileptic marmosets than control marmosets.This study provides valuable population genomic resources for marmosets in two Asian primate centers.Genetic analyses identified a reasonable breeding strategy for genetic diversity maintenance in the two centers,while the case-control study revealed potential risk genes/variants associated with epilepsy in marmosets. 展开更多
关键词 Common marmoset(Callithrix jacchus) Population genetics whole-genome sequencing Genetic chimerism Epilepsy Risk locus
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Genome-wide scan for selection signatures based on whole-genome re-sequencing in Landrace and Yorkshire pigs 被引量:2
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作者 WANG Kai WU Ping-xian +12 位作者 CHEN De-juan ZHOU Jie YANG Xi-di JIANG An-an MA Ji-deng TANG Qian-zi XIAO Wei-hang JIANG Yan-zhi ZHU Li QIU Xiao-tian LI Ming-zhou LI Xue-wei TANG Guo-qing 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2021年第7期1898-1906,共9页
We performed a genome-wide scan to detect selection signatures that showed evidence of positive selection in the domestication process by re-sequencing the whole genomes of Landrace and Yorkshire pigs.Fifteen annotate... We performed a genome-wide scan to detect selection signatures that showed evidence of positive selection in the domestication process by re-sequencing the whole genomes of Landrace and Yorkshire pigs.Fifteen annotated elements with 13 associated genes were identified using the Z-transformed FST(Z(FST))method,and 208 annotated elements with 140 associated genes were identified using the Z-transformed heterozygosity(ZHp)method.The functional analysis and the results of previous studies showed that most of the candidate genes were associated with basic metabolism,disease resistance,cellular processes,and biochemical signals,and several were related to body morphology and organs.They included PPP3CA,which plays an essential role in the transduction of intracellular Ca2+-mediated signals,and WWTR1,which plays a pivotal role in organ size control and tumor suppression.These results suggest that genes associated with body morphology were subject to selection pressure during domestication,whereas genes involved in basic metabolism and disease resistance were subject to selection during artificial breeding.Our findings provide new insights into the potential genetic variation of phenotypic diversity in different pig breeds and will help to better understand the selection effects of modern breeding in Landrace and Yorkshire pigs. 展开更多
关键词 pig variation whole-genome sequence selection signature phenotypic trait
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Cost-effective low-coverage whole-genome sequencing assay for the risk stratification of gastric cancer 被引量:2
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作者 Li-Ping Ye Xin-Li Mao +11 位作者 Xian-Bin Zhou Yi Wang Shi-Wen Xu Sai-Qin He Zi-Liang Qian Xiao-Gang Zhang Li-Juan Zhai Jin-Bang Peng Bin-Bin Gu Xiu-Xiu Jin Ya-Qi Song Shao-Wei Li 《World Journal of Gastrointestinal Oncology》 SCIE 2022年第3期690-702,共13页
BACKGROUND Gastric cancer(GC), a multifactorial disease, is caused by pathogens, such as Helicobacter pylori(H. pylori) and Epstein-Barr virus(EBV), and genetic components.AIM To investigate microbiomes and host genom... BACKGROUND Gastric cancer(GC), a multifactorial disease, is caused by pathogens, such as Helicobacter pylori(H. pylori) and Epstein-Barr virus(EBV), and genetic components.AIM To investigate microbiomes and host genome instability by cost-effective,low-coverage wholegenome sequencing,as biomarkers for GC subtyping.METHODS Samples from 40 GC patients were collected from Taizhou Hospital,Zhejiang Province,affiliated with Wenzhou Medical University.DNA from the samples was subjected to low-coverage wholegenome sequencing with a median genome coverage of 1.86×(range:1.03×to 3.17×) by Illumina×10,followed by copy number analyses using a customized bioinformatics workflow ultrasensitive chromosomal aneuploidy detector.RESULTS Of the 40 GC samples,20 (50%) were found to be enriched with microbiomes.EBV DNA was detected in 5 GC patients (12.5%).H.pylori DNA was found in 15 (37.5%) patients.The other 20(50%) patients were found to have relatively higher genomic instability.Copy number amplifications of the oncogenes,ERBB2 and KRAS,were found in 9 (22.5%) and 7 (17.5%) of the GC samples,respectively.EBV enrichment was found to be associated with tumors in the gastric cardia and fundus.H.pylori enrichment was found to be associated with tumors in the pylorus and antrum.Tumors with elevated genomic instability showed no localization and could be observed in any location.Additionally,H.pylori-enriched GC was found to be associated with the Borrmann type Ⅱ/Ⅲ and gastritis history.EBV-enriched GC was not associated with gastritis.No statistically significant correlation was observed between genomic instability and gastritis.Furthermore,these three different molecular subtypes showed distinct survival outcomes (P=0.019).EBV-positive tumors had the best prognosis,whereas patients with high genomic instability (CIN+) showed the worst survival.Patients with H.pylori infection showed intermediate prognosis compared with the other two subtypes.CONCLUSION Thus,using low-coverage whole-genome sequencing,GC can be classified into three categories based on disease etiology;this classification may prove useful for GC diagnosis and precision medicine. 展开更多
关键词 Gastric cancer whole-genome sequencing Helicobacter pylori infections Epstein-Barr virus infections Genetic components Precision medicine
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Safety assessment of a novel marine multi-stress-tolerant yeast Meyerozyma guilliermondii GXDK6 according to phenotype and whole genome-sequencing analysis
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作者 Xueyan Mo Mengcheng Zhou +8 位作者 Yanmei Li Lili Yu Huashang Bai Peihong Shen Xing Zhou Haojun Zhu Huijie Sun Ru Bu Chengjian Jiang 《Food Science and Human Wellness》 SCIE CAS CSCD 2024年第4期2048-2059,共12页
The application of microorganisms as probiotics is limited due to lack of safety evaluation.Here,a novel multi-stress-tolerant yeast Meyerozyma guilliermondii GXDK6 with aroma-producing properties was identified from ... The application of microorganisms as probiotics is limited due to lack of safety evaluation.Here,a novel multi-stress-tolerant yeast Meyerozyma guilliermondii GXDK6 with aroma-producing properties was identified from marine mangrove microorganisms.Its safety and probiotic properties were assessed in accordance with phenotype and whole-genome sequencing analysis.Results showed that the genes and phenotypic expression of related virulence,antibiotic resistance and retroelement were rarely found.Hyphal morphogenesis genes(SIT4,HOG1,SPA2,ERK1,ICL1,CST20,HSP104,TPS1,and RHO1)and phospholipase secretion gene(VPS4)were annotated.True hyphae and phospholipase were absent.Only one retroelement(Tad1-65_BG)was found.Major biogenic amines(BAs)encoding genes were absent,except for spermidine synthase(JA9_002594),spermine synthase(JA9_004690),and tyrosine decarboxylase(inx).The production of single BAs and total BAs was far below the food-defined thresholds.GXDK6 had no resistance to common antifungal drugs.Virulence enzymes,such as gelatinase,DNase,hemolytic,lecithinase,and thrombin were absent.Acute toxicity test with mice demonstrated that GXDK6 is safe.GXDK6 has a good reproduction ability in the simulation gastrointestinal tract.GXDK6 also has a strong antioxidant ability,β-glucosidase,and inulinase activity.To sum up,GXDK6 is considered as a safe probiotic for human consumption and food fermentation. 展开更多
关键词 Meyerozyma guilliermondii Safety assessment PROBIOTICS Marine mangrove microorganisms whole-genome sequencing analysis
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Whole-genome Sequencing Reveals Autooctoploidy in Chinese Sturgeon and Its Evolutionary Trajectories
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作者 Binzhong Wang Bin Wu +22 位作者 Xueqing Liu Yacheng Hu Yao Ming Mingzhou Bai Juanjuan Liu Kan Xiao Qingkai Zeng Jing Yang Hongqi Wang Baifu Guo Chun Tan Zixuan Hu Xun Zhao Yanhong Li Zhen Yue Junpu Mei Wei Jiang Yuanjin Yang Zhiyuan Li Yong Gao Lei Chen Jianbo Jian Hejun Du 《Genomics, Proteomics & Bioinformatics》 SCIE CAS CSCD 2024年第1期51-65,共15页
The order Acipenseriformes,which includes sturgeons and paddlefishes,represents“living fossils”with complex genomes that are good models for understanding whole-genome duplication(WGD)and ploidy evolution in fishes.... The order Acipenseriformes,which includes sturgeons and paddlefishes,represents“living fossils”with complex genomes that are good models for understanding whole-genome duplication(WGD)and ploidy evolution in fishes.Here,we sequenced and assembled the first high-quality chromosome-level genome for the complex octoploid Acipenser sinensis(Chinese sturgeon),a critically endangered species that also represents a poorly understood ploidy group in Acipenseriformes.Our results show that A.sinensis is a complex autooctoploid species containing four kinds of octovalents(8n),a hexavalent(6n),two tetravalents(4n),and a divalent(2n).An analysis taking into account delayed rediploidization reveals that the octoploid genome composition of Chinese sturgeon results from two rounds of homologous WGDs,and further provides insights into the timing of its ploidy evolution.This study provides the first octoploid genome resource of Acipenseriformes for understanding ploidy compositions and evolutionary trajectories of polyploid fishes. 展开更多
关键词 Chinese sturgeon whole-genome sequencing Autooctoploid Polyploidization and diploidization whole-genome duplication
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Draft genome sequence of a less-known wild Vigna: Beach pea(V. marina cv. ANBp-14-03) 被引量:2
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作者 Awnindra Kumar Singh A.Velmurugan +8 位作者 Debjyoti Sen Gupta Jitendra Kumar Ravi Kesari Aravind Konda Narendra Pratap Singh Sibnarayan Dam Roy Utpal Biswas R.Rahul Kumar Sanjay Singh 《The Crop Journal》 SCIE CAS CSCD 2019年第5期660-666,共7页
Beach pea or beach cowpea(Vigna marina(Burm.)Merr.)belongs to the family Fabaceae.It is a close relative of cultivated Vigna species such as adzuki bean(V.angularis),cowpea(V.unguiculata),mung bean(V.radiata),and blac... Beach pea or beach cowpea(Vigna marina(Burm.)Merr.)belongs to the family Fabaceae.It is a close relative of cultivated Vigna species such as adzuki bean(V.angularis),cowpea(V.unguiculata),mung bean(V.radiata),and blackgram(V.mungo),and is distributed throughout the tropics.With its ability to tolerate salt stress,beach pea has great potential to contribute salt-tolerance genes for developing salt-tolerant cultivars in cultivated Vigna species.However,it is still underutilized in Vigna breeding programs.A draft genome sequence of beach pea was generated using a high-throughput next-generation sequencing platform,yielding 23.7 Gb of sequence from 79,929,868 filtered reads.A de novo genome assembly containing 68,731 scaffolds gave an N50 length of 10,272 bp and the assembled sequences totaled 365.6 Mb.A total of 35,448 SSRs,including 3574 compound SSRs,were identified and primer pairs for most of these SSRs were designed.Genome analysis identified 50,670 genes with mean coding sequence length 1042 bp.Phylogenetic analysis revealed highest sequence similarity with V.angularis,followed by V.radiata.Comparison with the V.angularis genome revealed 16,699 SNPs and 2253 InDels and comparison with the V.radiata genome revealed 17,538 SNPs and 2300 InDels.To our knowledge this is the first draft genome sequence of beach pea derived from an accession(ANBp-14-03)adapted locally in the Andaman and Nicobar Islands of India.The draft genome sequence may facilitate the genetic enhancement in cultivated Vigna species. 展开更多
关键词 BEACH PEA Vigna MARINA NextSeq 500 whole-genome sequencing Salinity tolerance
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Complete genome sequence of a Rodent Torque teno virus in Hainan Island, China and establishment of a real-time PCR for detecting Rodent Torque teno virus 3
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作者 Yue Wu Shan-Shan Wang +12 位作者 Wen-Qi Wang Huan-Huan Zhou Jin-Long Chen Yu-Fang Yi Tian-Ming Ma Xiu-Ji Cui Yi Huang Gao-Yu Wang Ruo-Yan Peng Xiao-Yuan Hu Chang-Hua He Gang Lu Fei-Fei Yin 《Journal of Hainan Medical University》 2019年第4期1-6,共6页
Objective:To perform whole-genome sequencing and phylogenetic analysis of the local endemic strain of Rodent Torque teno virus (RoTTV), RoTTV3-HMU1, found in Rattus norvegicus, Haikou City, Hainan Province, and establ... Objective:To perform whole-genome sequencing and phylogenetic analysis of the local endemic strain of Rodent Torque teno virus (RoTTV), RoTTV3-HMU1, found in Rattus norvegicus, Haikou City, Hainan Province, and establish a SYBR Green I based real-time PCR detection assay for RoTTV3.Methods: Based on the high-throughput genome sequencing analysis, specific primers were designed and the whole genome sequence was amplified by PCR and Sanger sequencing. Specific detection primers were designed based on the conserved sequences of RoTTV3. The recombinant plasmid contained the whole genome of RoTTV3-HMU1 was constructed as a standard control. The experimental conditions were optimized and the real-time PCR detection assay of RoTTV3 was established.Results: The genomic sequence of RoTTV carried by Rattus norvegicus in Haikou City was successfully sequenced. Phylogenetic analysis indicated that the virus belongs to the RoTTV3 genotype. In this experiment, the real-time PCR detection method of RoTTV3 was established. The standard curve generated had a wide dynamic range from 1×(102-108) copies/μL, with a linear correlation (R2=1.000). The melting curve analysis using SYBR Green showed only one specific melting peak and no primer-dimmers represented. The detection limit was 100 copies/reaction.Discussion: This study was the first report of the RoTTV in Hainan Islands, and its phylogenetic analysis was of great significance to the origin and evolution of RoTTV. The RoTTV3 real-time PCR detection method established in this experiment has a high sensitivity and good specificity, which lays a technical foundation for the epidemiological investigation of RoTTV3. 展开更多
关键词 RODENT TORQUE teno virus whole-genome sequencING Real-time PCR detection ASSAY
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2022年吉林省食品中沙门氏菌耐药性及分子特征分析
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作者 孙景昱 赵薇 +3 位作者 孙绩岩 石奔 李可维 黄鑫 《中国人兽共患病学报》 CAS CSCD 北大核心 2024年第2期104-110,共7页
目的了解吉林省食品中沙门氏菌的分布情况和耐药基因特征,为防控食源性疾病提供科学依据。方法对2022年吉林省食品中61株沙门菌,采用微量肉汤稀释法进行25种抗生素耐药性试验。利用全基因组测序技术及生物信息学方法对菌株耐药基因进行... 目的了解吉林省食品中沙门氏菌的分布情况和耐药基因特征,为防控食源性疾病提供科学依据。方法对2022年吉林省食品中61株沙门菌,采用微量肉汤稀释法进行25种抗生素耐药性试验。利用全基因组测序技术及生物信息学方法对菌株耐药基因进行分析。结果61株沙门菌分为19种血清型,优势血清型为肠炎沙门菌(52.46%,32/61)。耐药性分析结果显示,沙门菌对氨苄西林的耐药率最高(60.66%,37/61),多重耐药率达24.60%(15/61),无优势耐药谱。不同抗生素的耐药表型与耐药基因存在差异。结论吉林省食品中沙门氏菌的多重耐药比例较高,耐药谱模式复杂,耐药基因携带率较高,需加强耐药性监测,避免抗生素滥用。 展开更多
关键词 沙门氏菌 食品 血清分型 耐药基因 全基因组测序
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绵羊肺炎支原体GH3-3株全基因组测序及生物信息学分析
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作者 田彤彤 葛家振 +4 位作者 高鹏程 李学瑞 宋国栋 郑福英 储岳峰 《生物技术通报》 CAS CSCD 北大核心 2024年第7期323-334,共12页
【目的】全面了解绵羊肺炎支原体GH3-3株的基因序列,研究其潜在的致病机制及其复制、转录、翻译过程的调控机制。【方法】采用体外培养,利用细菌基因组DNA提取试剂盒提取绵羊肺炎支原体GH3-3株基因组DNA,进行全基因组测序。【结果】绵... 【目的】全面了解绵羊肺炎支原体GH3-3株的基因序列,研究其潜在的致病机制及其复制、转录、翻译过程的调控机制。【方法】采用体外培养,利用细菌基因组DNA提取试剂盒提取绵羊肺炎支原体GH3-3株基因组DNA,进行全基因组测序。【结果】绵羊肺炎支原体GH3-3株基因组大小为1060772 bp,GC含量为29.66%,基因组组分分析后发现,GH3-3株的基因组含有730个编码基因,总长度为914379 bp,平均长度为1252.57 bp,占基因组全长的86.2%。串联重复序列共149个,总长为20926 bp,占基因组全长的1.97%。微卫星DNA序列102个,tRNA 30个,rRNA 3个。在NR、SwissProt、GOG、KEGG、GO、CARD、CAZy、PHI、TCDB、RMS数据库中,分别有719、459、473、394、449、33、5、180、113、59个基因被注释;在VFDB数据库中,共注释到了76个毒力因子相关的基因。将基因组序列提交至NCBI网站,获得登录号为:PRJNA1051969。【结论】获得了绵羊肺炎支原体GH3-3株完整的基因组信息,预测和注释了其基因的功能,明确了GH3-3株以及与国内外其他绵羊肺炎支原体菌株之间的遗传进化关系。 展开更多
关键词 绵羊肺炎支原体 GH3-3株 全基因组测序 毒力因子 耐药基因
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传染性喉气管炎病毒WG株Us区基因结构分析 被引量:2
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作者 韩文雄 石星明 +5 位作者 王云峰 兰德松 胡文玮 王玫 曹贵方 童光志 《中国预防兽医学报》 CAS CSCD 北大核心 2008年第10期779-784,共6页
根据GenBank中的传染性喉气管炎病毒(ILTV)全序列(NCBI登录号:NC-006623),利用Oligo6.2分析序列并设计6对引物,以ILTVWG株基因组DNA为模板,PCR扩增了长度为13.1kb的区域,得到了完整的WG株的Us区序列,初步鉴定了WG株的Us区基因结构。将W... 根据GenBank中的传染性喉气管炎病毒(ILTV)全序列(NCBI登录号:NC-006623),利用Oligo6.2分析序列并设计6对引物,以ILTVWG株基因组DNA为模板,PCR扩增了长度为13.1kb的区域,得到了完整的WG株的Us区序列,初步鉴定了WG株的Us区基因结构。将WG株的Us区序列分别与ILTVUSDA株、BHV-1、CeHV-1、EHV-1、HSV-1、HSV-2、MDV、PrV、HVT、VZV相比较,ILTVWG株与USDA株同源性为99.2%,而与其他疱疹病毒之间的同源性较低,而且Us区大小也不一致;与已发表的ILTVUSDA株Us区基因序列分别比较后发现,两者之间差异较大的基因分别为gJ基因和gD基因。其中,gJ基因在第1983个碱基处比USDA株多出30bp,DNAStar预测这30bp可能形成一个独立的抗原表位;gD基因的长度在不同的ILTV毒株之间差别较大,与其他疱疹病毒具有相似的结构特征。 展开更多
关键词 传染性喉气管炎病毒 wg Us区基因 序列分析
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一种基于WG序列的测距新方法 被引量:1
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作者 姚永刚 赵正予 +1 位作者 姚明 黄天锡 《电波科学学报》 EI CSCD 2002年第3期282-285,共4页
应用具有良好相关特性的伪随机序列可以提高雷达测距信噪比 ,有助于实现高效率低功率的目标探测。二相发射态结合雷达的非发射状态可以定义三态序列。文中介绍了三态序列的一些概念及其主要性质 ;讨论了Wolfmann Goutelard(WG)序列的近... 应用具有良好相关特性的伪随机序列可以提高雷达测距信噪比 ,有助于实现高效率低功率的目标探测。二相发射态结合雷达的非发射状态可以定义三态序列。文中介绍了三态序列的一些概念及其主要性质 ;讨论了Wolfmann Goutelard(WG)序列的近完美周期自相关性 ;并基于三态序列相关函数的定义 ,应用WG序列生成的三态码3WG ,构造了一种适用于测距雷达的、具有良好性质的码序列测距方法。 展开更多
关键词 wg序列 测距 测距雷达 三态序列 相位编码 脉冲压缩
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Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies
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作者 LI Min ZHANG Yu Lan +4 位作者 ZHANG Kai Li LI Ping Ping LYU Yu Han LIANG Ya Xin YU Yue 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2024年第5期503-510,共8页
Objective VATER/VACTERL-like association is associated with adverse pregnancy outcomes.Genetic evidence of this disorder is sporadic.In this study,we aimed to provide genetic insights to improve the diagnosis of VACTE... Objective VATER/VACTERL-like association is associated with adverse pregnancy outcomes.Genetic evidence of this disorder is sporadic.In this study,we aimed to provide genetic insights to improve the diagnosis of VACTERL.Methods We have described a Chinese family in which four members were affected by renal defects or agenesis,anal atresia,and anovaginal fistula,which is consistent with the diagnosis of a VACTERL-like association.Pedigree and genetic analyses were conducted using genome and exome sequencing.Results Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals,harboring a 196–380 kb microdeletion on Xq27.1,which was identified by familial exome sequencing.Genome sequencing was performed on the affected male,confirming a-196 kb microdeletion in Xq27.1,which included a 28%loss of the CDR-1 gene.Four family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in X27.1.Conclusion These results suggest that the 196–380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association.However,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association. 展开更多
关键词 Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-LINKED
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Population genomic data reveal low genetic diversity,divergence and local adaptation among threatened Reeves's Pheasant(Syrmaticus reevesii)
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作者 Qi Lu Pengcheng Wang +4 位作者 Jiang Chang De Chen Shenghan Gao Jacob Hoglund Zhengwang Zhang 《Avian Research》 SCIE CSCD 2024年第1期1-11,共11页
Population genomic data could provide valuable information for conservation efforts;however,limited studies have been conducted to investigate the genetic status of threatened pheasants.Reeves’s Pheasant(Syrmaticus r... Population genomic data could provide valuable information for conservation efforts;however,limited studies have been conducted to investigate the genetic status of threatened pheasants.Reeves’s Pheasant(Syrmaticus reevesii)is facing population decline,attributed to increases in habitat loss.There is a knowledge gap in understanding the genomic status and genetic basis underlying the local adaptation of this threatened bird.Here,we used population genomic data to assess population structure,genetic diversity,inbreeding patterns,and genetic divergence.Furthermore,we identified candidate genes linked with adaptation across the current distribution of Reeves’s Pheasant.The present study assembled the first de novo genome sequence of Reeves’s Pheasant and annotated 19,458 genes.We also sequenced 30 individuals from three populations(Dabie Mountain,Shennongjia,Qinling Mountain)and found that there was clear population structure among those populations.By comparing with other threatened species,we found that Reeves’s Pheasants have low genetic diversity.Runs of homozygosity suggest that the Shennongjia population has experienced serious inbreeding.The demographic history results indicated that three populations experienced several declines during the glacial period.Local adaptative analysis among the populations identified 241 candidate genes under directional selection.They are involved in a large variety of processes,including the immune response and pigmentation.Our results suggest that the three populations should be considered as three different conservation units.The current study provides genetic evidence for conserving the threatened Reeves’s Pheasant and provides genomic resources for global biodiversity management. 展开更多
关键词 Conservation genetics Local adaptation PHEASANT whole-genome sequencing
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Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing in Chinese patients 被引量:2
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作者 Xianggui Yuan Teng Yu +6 位作者 Jianzhi Zhao Huawei Jiang Yuanyuan Hao Wen Lei Yun Liang Baizhou Li Wenbin Qian 《Frontiers of Medicine》 SCIE CSCD 2023年第5期889-906,共18页
Primary central nervous system lymphoma(PCNSL)is an uncommon non-Hodgkin’s lymphoma with poor prognosis.This study aimed to depict the genetic landscape of Chinese PCNSLs.Whole-genome sequencing was performed on 68 n... Primary central nervous system lymphoma(PCNSL)is an uncommon non-Hodgkin’s lymphoma with poor prognosis.This study aimed to depict the genetic landscape of Chinese PCNSLs.Whole-genome sequencing was performed on 68 newly diagnosed Chinese PCNSL samples,whose genomic characteristics and clinicopathologic features were also analyzed.Structural variations were identified in all patients with a mean of 349,which did not significantly influence prognosis.Copy loss occurred in all samples,while gains were detected in 77.9%of the samples.The high level of copy number variations was significantly associated with poor progression-free survival(PFS)and overall survival(OS).A total of 263 genes mutated in coding regions were identified,including 6 newly discovered genes(ROBO2,KMT2C,CXCR4,MYOM2,BCLAF1,and NRXN3)detected in≥10%of the cases.CD79B mutation was significantly associated with lower PFS,TMSB4X mutation and high expression of TMSB4X protein was associated with lower OS.A prognostic risk scoring system was also established for PCNSL,which included Karnofsky performance status and six mutated genes(BRD4,EBF1,BTG1,CCND3,STAG2,and TMSB4X).Collectively,this study comprehensively reveals the genomic landscape of newly diagnosed Chinese PCNSLs,thereby enriching the present understanding of the genetic mechanisms of PCNSL. 展开更多
关键词 primary central nervous system lymphoma whole-genome sequencing TMSB4X copy number variation gene utation
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WG序列和Hyperoval序列的互相关性研究
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作者 王慧 崇金凤 卓泽朋 《计算机工程》 CAS CSCD 2012年第7期96-98,共3页
针对伪随机序列中的伪随机特性问题,利用从F2 n到F 2的迹函数在一点处的Walsh谱表示法,对n为奇数时的WG序列和Hyperoval序列及其采样序列间的互相关函数进行研究。分析结果表明,WG序列Hyperoval序列间的互相关函数及WG序列和采样间隔为1... 针对伪随机序列中的伪随机特性问题,利用从F2 n到F 2的迹函数在一点处的Walsh谱表示法,对n为奇数时的WG序列和Hyperoval序列及其采样序列间的互相关函数进行研究。分析结果表明,WG序列Hyperoval序列间的互相关函数及WG序列和采样间隔为1/(k 1)的Glynn类型Ⅱ的Hyperoval序列间的互相关函数均可转化为m-序列与其采样序列间的互相关函数。 展开更多
关键词 迹函数 理想自相关函数 互相关函数 WALSH谱 wg序列 Hyperoval序列
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鸡传染性喉气管炎病毒WG株ICP4基因的鉴定及其在潜伏位点的表达 被引量:2
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作者 木古丽 王云峰 +4 位作者 侯绍华 石星明 王玫 冉多良 童光志 《中国预防兽医学报》 CAS CSCD 北大核心 2007年第6期417-422,共6页
根据传染性喉气管炎病毒(Infectious laryngotracheitis virus,ILTV)SA-2株ICP4基因序列设计并合成3对引物,以ILTV中国王岗株(WG)DNA为模板扩增ICP4基因,并对其进行了序列测定。将ILTV WG株的ICP4基因及其推导的氨基酸序列,分别与ILTV S... 根据传染性喉气管炎病毒(Infectious laryngotracheitis virus,ILTV)SA-2株ICP4基因序列设计并合成3对引物,以ILTV中国王岗株(WG)DNA为模板扩增ICP4基因,并对其进行了序列测定。将ILTV WG株的ICP4基因及其推导的氨基酸序列,分别与ILTV SA-2株、BHV-1、EHV-1、EHV-4、MDV-1、MDV-2、HVT、PRV、VZV、HSV-1和HSV-2的ICP4基因及其推导的氨基酸序列比较后发现,ILTV毒株之间ICP4基因相对保守,核苷酸和氨基酸水平的同源性分别为99.7%和99.1%,但与其它α-疱疹病毒的ICP4基因的同源性则较低,低于3.0%。对潜伏感染鸡三叉神经节中病毒基因的检测显示,在人工感染ILTV WG株后第10 d~60 d内均能检测到ICP4特异RNA,而gB、gC、TK则未能检出。鉴于目前国内外对α-疱疹病毒潜伏感染相关基因以及ICP4基因序列和结构功能的研究,ILTV WG株ICP4基因的克隆和序列测定,以及病毒基因在潜伏感染鸡三叉神经节中的差异表达,为进一步研究ICP4基因的功能及确定潜伏感染相关基因奠定了基础。 展开更多
关键词 传染性喉气管炎病毒 wg ICP4基因 序列分析 潜伏感染
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Study on Mutation and Its Characteristics of Mycobacterium Tuberculosis Multidrug Resistance Genes Based on Whole-genome Sequencing
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作者 HUANG Hao-nan QIU Qun-feng +1 位作者 CHEN Yan-hong ZHANG Chun-chun 《Chinese Journal of Biomedical Engineering(English Edition)》 CAS 2023年第4期145-153,共9页
Objective: The increase in the development of resistance to multiple drugs in mycobacterium tuberculosis(MTB) poses a substantial obstacle to the prevention and management of tuberculosis(TB). A thorough investigation... Objective: The increase in the development of resistance to multiple drugs in mycobacterium tuberculosis(MTB) poses a substantial obstacle to the prevention and management of tuberculosis(TB). A thorough investigation of the genotypes linked to multidrug resistance is crucial for comprehending the mechanisms underlying drug resistance. The objective of this research was to assess the attributes of gene mutations associated with multidrug resistance in clinical isolates of mycobacterium tuberculosis through the utilization of whole-genome sequencing. Methods: A total of 124 strains of drug-resistant mycobacterium tuberculosis were collected, and the genomic DNA of both multidrug-resistant and rifampin-resistant strains were extracted and sequenced. Bioinformatics was used to analyze and compare multidrug resistance-related gene sequences in order to detect the variation of multidrug resistance genes. Results: The results revealed that the resistance spectrum of XDR-TB group was much wider than that of the other three groups, with the RR-TB group having the most limited resistance spectrum.Within the MDR-TB strains, fabG1 exhibited the highest frequency of mutations, while RRS, gyrA, and rpoB were identified as the predominant mutation bases in XDR-TB strains. Additionally, rpoB emerged as the primary mutation base in MDR-TB and RR-TB strains. Notably, the fabG1 mutation was found to be closely associated with PDR-TB. Furthermore, the correlation between the mutation rate of rpoB and multidrug resistance was deemed to be of secondary importance. Conclusion: Various strains of MTB exhibited distinct mechanisms of drug resistance, with the gene mutations of fabG1,RRS, gyrA, and rpoB potentially playing a pivotal role in the development of drug resistance. However, the primary genes responsible for drug resistance mutations varied among different strains of TB. 展开更多
关键词 multidrug resistance mycobacterium tuberculosis whole-genome sequencing GENE MUTATION
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扩展的WG序列线性复杂度的研究
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作者 叶婷 陈克非 +2 位作者 沈忠华 孟倩 张文政 《杭州师范大学学报(自然科学版)》 CAS 2016年第3期277-281,共5页
Welch-Gong(WG)序列是一类具有良好随机性的二元序列,由特定的五项式通过WG变换产生.文章将WG变换中特定的五项式推广成一般的三项式,对基于三项式的WG序列的线性复杂度展开研究,找到了几类指数的一般形式,能使序列的线性复杂度为指数... Welch-Gong(WG)序列是一类具有良好随机性的二元序列,由特定的五项式通过WG变换产生.文章将WG变换中特定的五项式推广成一般的三项式,对基于三项式的WG序列的线性复杂度展开研究,找到了几类指数的一般形式,能使序列的线性复杂度为指数级增长,为三项式在WG变换中的应用提供了多种选择. 展开更多
关键词 wg序列 三项式 随机性 线性复杂度
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鸡传染性喉气管炎病毒(ILTV)WG株ICP4基因的鉴定及其在潜伏位点的表达
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作者 木古丽 王云峰 +4 位作者 侯绍华 石星明 王玫 冉多良 童光志 《广西农业生物科学》 CAS CSCD 2006年第B09期213-214,共2页
根据传染性喉气管炎病毒(Infectious Laryngotracheitis Virus,ILTV)SA2株ICP4基因序列设计并合成3对引物,以ILTV中国王岗株(WG)株DNA为模板扩增ICP4基因,并对其进行了序列测定。将ILTV WG株的ICP4基因及其推导的氨基酸序列分别... 根据传染性喉气管炎病毒(Infectious Laryngotracheitis Virus,ILTV)SA2株ICP4基因序列设计并合成3对引物,以ILTV中国王岗株(WG)株DNA为模板扩增ICP4基因,并对其进行了序列测定。将ILTV WG株的ICP4基因及其推导的氨基酸序列分别与ILTVSA-2株、BHV-1、EHV-1、EHV-4、MDV-1、MDV-2、HVT、PRV、VZV、HSV-1和HSV-2的ICP4基因及其推导的氨基酸序列比较后发现,ILTV毒株之间ICP4基因相对保守,核苷酸和氨基酸水平的同源性分别为99.7%和99.19/5,但与其他α-疱疹病毒的ICP4基因的同源性则较低,低于3.0%。对潜伏感染鸡三叉神经节中病毒基因的检测显示,在人工感染ILTVWG株后第10460d内均能检测到低水平的ICP4特异RNA,而gB、gC、TK则未能检出。鉴于目前国内外对α-疱疹病毒潜伏感染相关基因以及ICP4基因序列和结构功能的研究,ILTVWG株ICP4基因的克隆和序列测定,以及病毒基因在潜伏感染鸡三叉神经节中的差异表达,为进一步研究ICP4基因的功能及确定潜伏感染相关基因奠定了基础。 展开更多
关键词 传染性喉气管炎病毒 wg ICP4基因 序列分析 潜伏感染
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