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Novel mutation c.1210-3C>G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis

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Frontiers of Medicine 2022年第1期16卷 150-155页

作者： Xinyue Zhao Keqiang Liu Wenshuai Xu Meng Xiao qianli zhang Jiaxing Song Keqi Chen Yaping Liu Xinlun Tian Kai-Feng Xu Xue zhang McKusick-zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100005China Department of Pulmonary and Critical Care Medicine Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

Cystic fibrosis(CF)is a rare autosomal recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator(CFTR).To identify the potential pathogenic mutations in a Chinese patient with CF,we conducted Sanger sequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTR and their flanking intronic *** patient is a compound heterozygote of c.2909G>A,***970Asp in exon 18 and c.1210-3C>G in cis with a poly-T of 5T(T5)sequence,3 bp upstream in intron *** splicing effect of c.1210-3C>G was verified via minigene assay in vitro,indicating that wild-type plasmid containing c.1210-3C together with T7 sequence produced a normal transcript and partial exon 10-skipping-transcript,whereas mutant plasmid containing c.1210-3G in cis with T5 sequence caused almost all mRNA to skip exon ***,c.1210-3C>G,the newly identified pathogenic mutation in our patient,in combination with T5 sequence in cis,affects the CFTR gene splicing and produces nearly no normal transcript in ***,this patient carries a ***970Asp mutation,thus confirming the high-frequency of this mutation in Chinese patients with CF.

关键词： cystic fibrosis CFTR splicing mutation minigene

Detection of Denial-of-service Attacks

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计算机工程 2002年第S1期28卷 86-91页

作者： Anh Quang Tran, zhang qianli , LI Xing (Tsinghua University, Beijing 100084, China) Tsinghua University Beijing 100084 China

Denial-of-service (DOS) is a type of computer attack, which can essentially disable computers and networks. Resource consumption type of DOS attack could not be detected by the traditional misuse detection technique. This paper presents a new method of support vector mchine (SVM) to detect these attacks. We find that a DOS attack to a host is related to the activities within an impact data set of the host. The SVM method is used to classify the subsets of an impact data set to estimate its anomalism. The experiment result shows that this method can detect resource consumption type of DOS attacks, such as SYN-flood, Smurf and UDP-storm. A receiver operating characteristic curve is plotted to determine performance for any possible operating point of the DOS attacks detection.

关键词： Denial-of-service attack Support vector machine Intrusion detection Receiver operating characteristic

Numerical analysis for permafrost temperature field in the short term of permafrost subgrade filling

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Railway Sciences 2023年第2期2卷 179-196页

作者： Yunjia Wang qianli zhang Railway Science and Technology Research and Development Center China Academy of Railway Sciences Corporation LimitedBeijingChina Railway Engineering Research Institute China Academy of Railway Sciences Corporation LimitedBeijingChina

Purpose-It is of great significance to study the influence of subgrade filling on permafrost temperature field in permafrost area for the smooth construction and safe operation of ***/methodology/approach-The paper builds up the model for the hydrothermal coupling calculation of permafrost using finite element software COMSOL to study how permafrost temperature field changes in the short term after subgrade filling,on which basis it proposes the method of calculation for the concave distortion of freezing front in the subgrade-covered ***-The results show that the freezing front below the subgrade center sinks due to the thermal effect of subgrade filling,which will trigger hydrothermal erosion in case of sufficient moisture inflows,leading to the thawing settlement or the cracking of the subgrade,*** heat output of soil will be hindered the most in case of July filling,in which case the sinking and the distortion of the freezing front is found to be the most severe,which the recovery of the permafrost temperature field,the slowest,constituting the most unfavorable working *** concave distortion of the freezing front in the subgrade area increases with the increase in temperature difference between the filler and ground surface,the subgrade height,the subgrade width and the volumetric thermal capacity of filler,while decreases with the increase of the thermal conductivity of ***,the filler chose for engineering project shall be of small volumetric thermal capacity,low initial temperature and high thermal conductivity whenever ***/value-The concave distortion of the freezing front under different working conditions at different times after filling can be calculated using the method proposed.

关键词： Subgrade Permafrost Temperature field Hydrothermal coupling Numerical simulation

Investigation of frost heave prevention using permeable subgrade structure

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Research in Cold and Arid Regions 2015年第5期7卷 611-618页

作者： DeGou Cai JianPing Yao HongYe Yan qianli zhang AiJun Cheng Jie Liu Railway Engineering Research Institute China Academy of Rails Science

This paper set up a series of comprehensive targets based on the concept of＇anti-freeze filler＇, which include reasonable water retention rate, frost heave characteristics, and compaction characteristics of filling material. Then, a type of permeable graded gravel is proposed, suitable for high-speed railway subgrade. A series of in-door water retention, permeability, and frost heave tests were performed under different graded conditions. Water retention, permeability, and frost heave characteristic of dif- ferent graded filling materials can be determined, in order to define the gradation range of permeable graded gravel. Relying on the frost-heave monitoring record of high speed railway in Northeast China, a series of experimental studies were per- formed, which included on-site filler production, compaction test, and the anti-frost effect test, in order to improve the pro- duction and compaction techniques of permeable graded gravel. From the research of this paper, the use of permeable graded gravel subgrade as the anti-frost structure for the high-speed railway subgrade in cold areas is feasible.

关键词： high-speed railway frost-heave prevention structure permeable filling material filling material production compaction control

Investigation of insulation layer dynamic characteristics for high-speed railway

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Research in Cold and Arid Regions 2015年第4期7卷 430-437页

作者： HongYe Yan GuoTang Zhao DeGou Cai qianli zhang JianPing Yao AiJun Cheng Railway Engineering Research Institute China Academy of Railway Sciences China Railway Corporation

Dynamic performance of insulation is one of the key parameters during the insulation application for high-speed railway subgrade. This paper conducted laboratory and field tests for the materials and dynamic load, especially for thermal performance, elastic deformation, and accumulated deformation of insulation materials. Experiment results show that mechanical properties of insulation layer structure are stable, which satisfies the requirements of the high speed railway.

关键词： high-speed railway insulation materials dynamic load elastic deformation accumulated deformation

Current situation and development trend of design methods for subgrade structure of high speed railways

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Railway Sciences 2023年第3期2卷 289-309页

作者： Yangsheng Ye Degou Cai qianli zhang Shaowei Wei Hongye Yan Lin Geng State Key Laboratory for Track Technology of High-Speed Railway China Academy of Railway Sciences Corporation LimitedBeijingChina China Academy of Railway Sciences Corporation Limited Railway Engineering Research InstituteBeijingChina State Key Laboratory of High Speed Railway Track Technology China Academy of Railway Sciences Corporation LimitedBeijingChina

Purpose–This method will become a new development trend in subgrade structure design for high speed ***/methodology/approach–This paper summarizes the structural types and design methods of subgrade bed for high speed railways in China,Japan,France,Germany,the United States and other countries based on the study and analysis of existing literature and combined with the research results and practices of high speed railway subgrade engineering at home and ***–It is found that in foreign countries,the layered reinforced structure is generally adopted for the subgrade bed of high speed railways,and the unified double-layer or multi-layer structure is adopted for the surface layer of subgrade bed,while the simple structure is adopted in China;in foreign countries,different inspection parameters are adopted to evaluate the compaction state of fillers according to their respective understanding and practice,while in China,compaction coefficient,subsoil coefficient and dynamic deformation modulus are adopted for such evaluation;in foreign countries,the subgrade top deformation control method,the subgrade bottom deformation control method,the subsurface fill strength control method are mainly adopted in subgrade bed structure design of high speed railways,while in China,dynamic deformation control of subgrade surface and dynamic strain control of subgrade bed bottom layer is adopted in the ***,the cumulative deformation of subgrade caused by train cyclic vibration load is not considered in the existing design ***/value–This paper introduces a new subgrade structure design method based on whole-process dynamics analysis that meets subgrade functional requirements and is established on the basis of the existing research at home and abroad on prediction methods for cumulative deformation of subgrade soil.

关键词： High speed railway Subgrade engineering Subgrade bed structure Design method Existing research Development trend

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电子包浆:时间性痕迹或尺度式差异

福建师范大学学报（哲学社会科学版） 2022年第5期 72-80,170,171页

作者：章戈浩章倩砺澳门科技大学人文艺术学院中国澳门9078 湖北大学艺术学院湖北武汉43000

近年来,中文互联网上兴起了所谓的“电子包浆”网络亚文化,以小像素、低分辨率、大量叠加水印为特征的图片表面看起来是类似于实体物的物理或化学包浆,实则本身并非时间性的痕迹。产生电子包浆的算法磨损与算法污渍彰显了作为数码物的... 详细信息

近年来,中文互联网上兴起了所谓的“电子包浆”网络亚文化,以小像素、低分辨率、大量叠加水印为特征的图片表面看起来是类似于实体物的物理或化学包浆,实则本身并非时间性的痕迹。产生电子包浆的算法磨损与算法污渍彰显了作为数码物的图形物的鉴证物质性与形式物质性,数字绿锈则体现出图形物的分布物质性特征。从新兴的尺度理论视角来看,电子包浆所体现出的数码物之间的差异在相当程度上只是屏幕本质主义带来的错觉。数码物之间的同异本质上只是一个尺度问题,而实体物与其数字化之后的再生数码物之间同样存在尺度意义上的差异。

关键词：电子包浆数码物图形物物质性尺度理论亚络亚文化

An IO block array in a radiation-hardened SOI SRAM-based FPGA

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Journal of Semiconductors 2012年第1期33卷 137-143页

作者： Zhao Yan Wu Lihua Han Xiaowei Li Yan zhang qianli Chen Liang zhang Guoquan Li Jianzhong Yang Bo Gao Jiantou Wang Jian Li Ming Liu Guizhai zhang Feng Guo Xufeng Zhao Kai Stanley L.Chen Yu Fang Liu zhongli Institute of Semiconductors Chinese Academy of Sciences Beijing 100083China

We present an input/output block （lOB） array used in the radiation-hardened SRAM-based field- programmable gate array （FPGA） VS1000, which is designed and fabricated with a 0.5 μm partially depleted silicon-on-insulator （SOI） logic process at the CETC 58th Institute. Corresponding with the characteristics of the FPGA, each IOB includes a local routing pool and two IO cells composed of a signal path circuit, configurable input/output buffers and an ESD protection network. A boundary-scan path circuit can be used between the pro- grammable buffers and the input/output circuit or as a transparent circuit when the IOB is applied in different modes. Programmable IO buffers can be used at TTL/CMOS standard levels. The local routing pool enhances the flexibility and routability of the connection between the IOB array and the core logic. Radiation-hardened designs, including A-type and H-type body-tied transistors and special D-type registers, improve the anti-radiation performance. The ESD protection network, which provides a high-impulse discharge path on a pad, prevents the breakdown of the core logic caused by the immense current. These design strategies facilitate the design of FPGAs with different ca- pacities or architectures to form a series of FPGAs. The functionality and performance of the IOB array is proved after a functional test. The radiation test indicates that the proposed VS 1000 chip with an IOB array has a total dose tolerance of 100 krad（Si）, a dose survivability rate of 1.5 × 10^11 rad（Si）/s, and a neutron fluence immunity of 1×10^14 n/cm2.

关键词： partially-depleted SOI FPGA IOB radiation-hardened ESD protection

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基于综合评分的DDoS检测分析报告系统

东南大学学报（自然科学版） 2017年第A1期47卷 20-24页

作者：李星刘骥琛张千里清华大学中国教育和科研计算机网网络中心北京100084 清华大学电子工程系北京100084

针对分布式拒绝服务攻击所采用的攻击方式多变这一问题,设计了综合评分算法,可以综合使用多个异常检测算法,综合评估以识别攻击.因现有的分布式拒绝服务攻击检测方法难以给出异常流量的具体特征,设计了Apriori-Geo-AS算法和端口分布分类... 详细信息

针对分布式拒绝服务攻击所采用的攻击方式多变这一问题,设计了综合评分算法,可以综合使用多个异常检测算法,综合评估以识别攻击.因现有的分布式拒绝服务攻击检测方法难以给出异常流量的具体特征,设计了Apriori-Geo-AS算法和端口分布分类的Kolmogorov-Smirnov检验算法,通过改进Apriori算法,能够更有效地提取攻击源的主要来源地址、端口和地理位置信息;通过和理想端口分布进行Kolmogorov-Smirnov检验,能够进一步判断出攻击者的端口使用模式.实验结果表明,异常检测算法正常时段的误报率低于0.2%,通过对清华大学校园网的网络攻击进行分析验证了本系统攻击分析部分的有效性.

关键词：分布式拒绝服务攻击异常检测 AprioriGeoAS算法 KolmogorovSmirnov检验