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沉积盆地波动过程分析:研究现状与展望

地学前缘 2024年第1期31卷 284-296页

作者：金之钧陈书平张瑞北京大学能源研究院北京100871 北京大学地球与空间科学学院造山带和地壳演化教育部重点实验室北京100871 页岩油气富集机理与高效开发全国重点实验室北京102206 中国石油大学(北京)地球科学学院油气资源与探测国家重点实验室北京102249

沉积盆地的波状运动是板块内部地壳运动的主要表现形式,沉积盆地的形成演化是地球系统中各种波动过程相互叠加的结果。盆地波动过程分析从沉积速率时间序列中分解出有周期规律的波动曲线,获得盆地演化历史的新认识,主要包括控制盆地演... 详细信息

沉积盆地的波状运动是板块内部地壳运动的主要表现形式,沉积盆地的形成演化是地球系统中各种波动过程相互叠加的结果。盆地波动过程分析从沉积速率时间序列中分解出有周期规律的波动曲线,获得盆地演化历史的新认识,主要包括控制盆地演化的波动周期与成藏旋回、盆地地壳升降运动与油气生成及热演化的关系、不整合面的时空分布与剥蚀量恢复、多尺度波动叠加控制下的地层格架时空分布与生储盖层配置关系、隆拗变迁规律与油气藏保存的关系等。盆地波动过程分析技术将成盆、成烃和成藏的研究思路与地壳的波动过程有机融合,可以定量描述油气成藏动态演化过程,对油气勘探实践具有指导作用。沉积盆地波动过程研究未来应着重开展超长天文周期与地球深部动力学旋回驱动的盆地波动机制研究,加强地质证据与数值模拟技术融合,完善盆地波动过程分析方法,推进盆地波动理论成果转化以全面理解圈层相互作用与资源环境效应。充分发挥盆地波动分析技术对油气藏分布规律的预测功能,为油气资源远景评价与勘探提供科学依据。

关键词：圈层相互作用地壳波状运动地球动力学天文周期油气成藏烃源岩

Formation mechanism and model for sand lens reservoirs in the Jiyang Sub-basin,East china

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Science china Earth Sciences 2004年第Z2期47卷 167-176页

作者： LI Pilong 1, PANG Xiongqi2.3, chen Dongxia2.3, zhang Shanwen1, {2. zhijun4 & JIANG Zhenxue2.3 1. Shengli Oil Field Ltd, SINOPEC, Dongying 2.7051, china 2. university of Petroleum, beijing 102.49, china 3. key laboratory of Oil and Gas accumulation, ministry of education, beijing 102.49, china 4. Research Institute of Petroleum Exploration and Exploitation, SINOPEC, beijing 100083, china Shengli Oil Field Ltd SINOPEC Dongying 257051 China university of Petroleum Beijing 102249 China key {1. of Oil and Gas {2. Ministry of Education Beijing 102249 China Research Institute of Petroleum Exploration and Exploitation SINOPEC Beijing 100083 China

The Bohai Bay basin comprises some very important and well documented subtle traps known in china, which have been the major exploration focus and have become a major petroleum play since the 1.90s. However, recent exploration showed that the oil-bearing proper-ties of some sand lens reservoirs may vary significantly and the {1. mechanisms for these lithological subtle traps are not well understood. Based on statistical analysis of oil-bearing properties for 1.2} sand lens reservoirs in the Jiyang Sub-basin and combined with detailed anatomy of typical sand lens reservoirs and NMR experiments, it has been shown that the structural and sedimentary factors, {2. generation and expulsion conditions of the sur-rounding source rocks, as well as the petrophysical properties of sand lens reservoirs are the main controlling factors for the formation of sand lens reservoirs. The formation of a sand lens reservoir depends on the interaction between the {2. {1. driving force and the resistance force. The driving force is made up of the differential capillary pressure between sandstones and sources rocks and the {2. diffusion force, and as well as the hydro-carbon expansion force. The resistance force is the friction resistance force for {2.s and water to move through the pore throats of the sand lens. The sedimentary environment, source rock condition and sand reservoir properties can change from unfavorable to favorable depend-ing on the combination of these factors. When these three factors all reach certain thresholds, the sand lens reservoirs may begin to be filled by {2.s. When all of these conditions be-come favorable for the formation of sand lens reservoirs, the reservoir would have high oil satu-ration. This approach has been applied to evaluating the potential of petroleum {1. in the sand lens reservoirs in the third member of the Neogene Shahejie Formation in the Jiyang Sub-basin.

关键词： sand lens reservoir, accumulation controlling factors, accumulation mechanism, accumulation model, Jiyang Sub-basin.

Discovery of low-mature hydrocarbon in manganese nodules and ooze from the Central Pacific deep sea floor

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Chinese Science Bulletin 2002年第11期47卷 939-944页

作者： HU Wenxuan jin {1. YAO Suping LU Xiancai {2. Zhilin zhang Linye zhang Xuejun ZHOU Huaiyang Department of Earth Sciences State Key Lab for Mineral Deposits RearchNanjing UniversityNanjing 210093China Basin&Reservoir Research Center University of PetroleumBeijing 102200China Institute of Geological Research of Shengli Petroleum Administration Dongying 257015China Second Institute of Oceanography State Oceanic AdministrationHangzhou 310012China

Extracts from manganese nodules and ooze from the Central Pacific deep sea floor were analyzed using the chromatogram-mass spectrum, and it was found that most of the biomarker molecules are of the low-mature type (some have characteristics of mature): the ratio of 'A'/C is high between 11.4%-19.75%; CPI is 1.2.-1.2.; C31-2.S/ (2.S+2.R) hopane is 0.59-0.60, Tm/Ts is 0.99-1.99; pa moretane/(αβ+βα) hopane is 0.12.0.14; C2. sterane 2.S/(2.S+2.R) is 0.35-0.41; ββ/(ββ+αα) is 0.38-0.45; arene TA(I)/TA(I+Ⅱ) is 0.16-0.2.; methyl-phenanthrene index (MPI1) is 0.35-0.67. According to the geological settings of the sampling area and its organic geochemical characteristics, it is considered that the hydrothermal activities on the ocean floor facilitate the decomposition of organic matter in the sediment, which leads to the generation and migration of hydrocarbon into manganese nodules and ooze. This discovery is important for understanding the mechanisms of hydrocarbon generation in the ocean floor and

关键词： manganese nodules ooze biomarker low-mature hydro-carbon.

ESCRT-Ⅲ component OsSNF7.2.modulates leaf rolling by trafficking and endosomal degradation of auxin biosynthetic enzyme OsYUC8 in rice

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Journal of Integrative Plant Biology 2023年第6期65卷 1408-1422页

作者： Liang Zhou Saihua chen Maohong Cai Song Cui Yulong Ren Xinyue {1. Tianzhen Liu Chunlei Zhou Xin {2. Limin {1. Minxi Wu Shuyi {1. zhijun cheng Xin {1. Cailin Lei Qibing Lin Xiuping Guo Jie Wang Zhichao Zhao Ling Jiang Shanshan Zhu Jianmin Wan State key {1. for Crop Genetics and Germplasm Enhancement Jiangsu Plant Gene Engineering Research CenterNanjing Agricultural UniversityNanjing 210095China National key Facility for Crop Gene Resources and Genetic Improvement Institute of Crop SciencesChinese Academy of Agricultural SciencesBeijing 100081China Jiangsu key {1. of Crop Genomics and Molecular Breeding/key {1. of Plant Functional Genomics of the ministry of education/Jiangsu key {1. of Crop Genetics and Physiology Agricultural College of Yangzhou UniversityYangzhou 225009China

The endosomal sorting complex required for transport(ESCRT)is highly conserved in eukaryotic cells and plays an essential role in the biogenesis of multivesicular bodies and cargo degradation to the plant vacuole or *** ESCRT components affect a variety of plant growth and development processes,their impact on leaf development is rarely ***,we found that OsSNF7.2.an ESCRT-Ⅲ component,controls leaf rolling in rice(Oryza sativa).The Ossnf7.2.mutant rolled leaf 1.(rl1.)has adaxially rolled leaves due to the decreased number and size of the bulliform ***7.2.s expressed ubiquitously in all tissues,and its protein is localized in the endosomal ***7.2.homologs,including OsSNF7,OsSNF7.3,and OsSNF7.4,can physically interact with OsSNF7.2.but their single mutation did not result in leaf *** ESCRT complex subunits,namely OsVPS2.,OsVPS2.,and OsBRO1.also interact with *** assays revealed that OsSNF7.2.interacts with OsYUC8 and aids its vacuolar *** Osyuc8and rl1. Osyuc8 showed rolled leaves,indicating that OsYUC8 and OsSNF7.2.function in the same pathway,conferring leaf *** study reveals a new biological function for the ESCRT-Ⅲcomponents,and provides new insights into the molecular mechanisms underlying leaf rolling.

关键词： bulliform cell leaf rolling OsSNF7.2 OsYUC8 rice(Oryza sativa) vacuolar degradation

CEPC Technical Design Report

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Radiation Detection Technology and Methods 2024年第1期8卷 I0003-I0016,1-1091页

作者： Waleed Abdallah Tiago Carlos Adorno de Freitas Konstantin Afanaciev Shakeel Ahmad Ijaz Ahmed Xiaocong Ai Abid Aleem Wolfgang Altmannshofer Fabio Alves Weiming An Rui An Daniele Paolo Anderle Stefan Antusch Yasuo Arai Andrej Arbuzov Abdesslam Arhrib Mustafa Ashry Sha Bai Yu Bai Yang Bai Vipul Bairathi Csaba Balazs Philip Bambade Yong Ban Tripamo Bandyopadhyay Shou-Shan Bao Desmond P.Barber Ayse Bat Varvara Batozskaya Subash Chandra Behera Alexander Belyaev Michele Bertucci Xiao-Jun Bi Yuanjie Bi Tianjian Bian Fabrizio Bianchi Thomas Biekotter Michela Biglietti Shalva Bilanishvili Deng Binglin Denis Bodrov Anton Bogomyagkov Serge Bondarenko Stewart Boogert Maarten Boonekamp Marcello Borri Angelo Bosotti Vincent Boudry Mohammed Boukidi Igor Boyko Ivanka Bozovic Giuseppe Bozzi Jean-Claude Brient Anastasiia Budzinskaya Masroor Bukhari Vladimir Bytev Giacomo Cacciapaglia Hua Cai Wenyong Cai Wujun Cai Yijian Cai Yizhou Cai Yuchen Cai Haiying Cai Huacheng Cai Lorenzo Calibbi Junsong Cang Guofu Cao Jianshe Cao Antoine Chance Xuejun Chang Yue Chang Zhe Chang Xinyuan Chang Wei Chao Auttakit Chatrabhuti Yimin Che Yuzhi Che Bin chen Danping chen Fuqing chen Fusan chen Gang chen Guoming chen Hua-Xing chen Huirun chen jinhui chen Ji-Yuan chen Kai chen Mali chen Mingjun chen Mingshui chen Ning chen Shanhong chen Shanzhen chen Shao-Long chen Shaomin chen Shiqiang chen Tianlu chen Wei chen Xiang chen Xiaoyu chen Xin chen Xun chen Xurong chen Ye chen Ying chen Yukai chen Zelin chen Zilin chen Gang chen Boping chen Chunhui chen Hok Chuen cheng Huajie cheng Shan cheng Tongguang cheng Yunlong Chi Pietro Chimenti Wen Han Chiu Guk Cho Ming-Chung Chu Xiaotong Chu Ziliang Chu Guglielmo Coloretti Andreas Crivellin Hanhua Cui Xiaohao Cui Zhaoyuan Cui Brunella D'Anzi Ling-Yun Dai Xinchen Dai Xuwen Dai Antonio De Maria Nicola De Filippis Christophe De La Taille Francesca De Mori Chiara De Sio Elisa Del Core Shuangxue Deng Wei-Tian Deng Zhi Deng Ziyan Deng Bhupal Dev Tang Dewen Biagio Di Micco Ran Ding Siqin Dingl Yadong Ding Haiyi Dong Jianin AGH university of Science and Technology Faculty of Physics and Applied Computer ScienceKrakow Anhui university HefeiAnhui Applied Physics Department Federal Urdu University of ArtsScience and TechnologyIslamabad Banaras Hindu university Institute of ScienceVaranasi Bandirma Onyedi Eylul university Bandirma Beihang university Beijing beijing Computational Science Research Center Beijing beijing Conveyi LTD Beijing beijing Glass Research Institute Co. LtdBeijing beijing Institute of Technology Beijing beijing Normal {1. Beijing Brown university ProvidenceRI Budker Institute of Nuclear Physics Novosibirsk Cadi Ayyad university Laboratory of Fundamental and Applied PhysicsPolydisciplinary FacultyMarrakech Cairo university Giza Center for Theory and Computation National Tsing Hua UniversityHsinchu Central china Normal {1. WuhanHubei Central South university ChangshaHunan Centro de Fisica Teorica de Particulas Universidade Tecnica de LisboaLisboa chengdu KaitengSifang Digital Radio&TV Equipment Co. LtdChengduSichuan china academy of engineering physics MianyangSichuan china building materials academy Beijing china Center of Advanced Science and Technology Beijing china Institute of Atomic Energy Beijing china Jiliang {1. HangzhouZhejiang china Nuclear Instrument CO. LTDBeijing china {1. of Geosciences Beijing china {1. of Geosciences WuhanHubei china {1. of Mining and Technology XuzhouJiangsu china West Normal {1. NanchongSichuan Chongqing university Department of PhysicsChongqing Chulalongkorn university Bangkok City university of Hong Kong Department of PhysicsHong Kong Cockcroft Institute Daresbury Cornell university IthacaNY CPPM(AMU/IPhU&CNRS/INP) Marseille Dalian Minzu university DalianLiaoning Dalian university of Technology Department of PhysicsDalian Deutsches Elektronen-Synchrotron DESY Hamburg Dzhelepov laboratory of Nuclear Problems of Joint Institute for Nuclear Research(DLNP {1.R) Dubna East china {1. Of Science And Technol

The Circular Electron Positron Collider(CEPC)is a large scientific project initiated and hosted by china,fostered through extensive collaboration with international *** complex comprises four accelerators:a 30 GeV Linac,a 1.1.GeV Damping Ring,a Booster capable of achieving energies up to 1.0 GeV,and a Collider operating at varying energy modes(Z,W,H,and tt).The Linac and Damping Ring are situated on the surface,while the subterranean Booster and Collider are housed in a 1.0 km circumference underground tunnel,strategically accommodating future expansion with provisions for a potential Super Proton Proton Collider(SPPC).The CEPC primarily serves as a Higgs *** its baseline design with synchrotron radiation(SR)power of 30 MW per beam,it can achieve a luminosity of 5×1.^(34)cm^(-{1.s^(-1.per interaction point(IP),resulting in an integrated luminosity of 1. ab^(-1.for two IPs over a decade,producing {1.6 million Higgs *** the SR power to 50 MW per beam expands the CEPC's capability to generate 4.3 million Higgs bosons,facilitating precise measurements of Higgs coupling at sub-percent levels,exceeding the precision expected from the HL-LHC by an order of *** Technical Design Report(TDR)follows the Preliminary Conceptual Design Report(Pre-CDR,{1.1.)and the Conceptual Design Report(CDR,{1.1.),comprehensively detailing the machine's layout,performance metrics,physical design and analysis,technical systems design,R&D and prototyping efforts,and associated civil engineering ***,it includes a cost estimate and a preliminary construction timeline,establishing a framework for forthcoming engineering design phase and site selection *** is anticipated to begin around {1.{1.-{1.{1.,pending government approval,with an estimated duration of 8 *** commencement of experiments and data collection could potentially be initiated in the mid-{1.30s.

关键词： initiated exceeding precise

Precision Higgs physics at the CEPC

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Chinese Physics C 2019年第4期43卷 5-44页

作者： Fenfen An Yu Bai Chunhui chen Xin chen Zhenxing chen Joao Guimaraes da Costa Zhenwei Cui Yaquan Fang chengdong Fu Jun Gao Yanyan Gao Yuanning Gao Shaofeng Ge Jiayin Gu Fangyi Guo Jun Guo Tao Han Shuang Han Hongjian He Xianke He Xiaogang He Jifeng Hu Shih-Chieh Hsu Shan jin Maoqiang jing Susmita Jyotishmati Ryuta Kiuchi Chia-Ming Kuo Peizhu Lai Boyang Li Congqiao Li Gang Li Haifeng Li Liang Li Shu Li Tong Li Qiang Li Hao Liang zhijun Liang Libo Liao Bo Liu Jianbei Liu Tao Liu Zhen Liu Xinchou Lou Lianliang Ma Bruce Mellado Xin Mo Mila Pandurovic Jianming Qian Zhuoni Qian Nikolaos Rompotis Manqi Ruan Alex Schuy Lianyou Shan jingyuan Shi Xin Shi Shufang Su Dayong Wang jin Wang Liantao Wang Yifang Wang Yuqian Wei Yue Xu Haijun Yang Ying Yang Weiming Yao Dan Yu Kaili zhang Zhaoru zhang Mingrui Zhao Xianghu Zhao Ning Zhou Institute of High Energy Physics Department of Physics and Astronomy Iowa State University Department of Physics Southeast University Department of Engineering Physics Physics Department Tsinghua University School of Physics Peking University university of Chinese Academy of Science (UCAS) Physical Science laboratory Huairou National Comprehensive Science Center School of Physics and Astronomy Shanghai Jiao Tong University KLPPAC-MoE SKLPPC Department of Physics University of Liverpool Kavli IPMU (WPI) UTIAS The University of Tokyo Department of Physics University of California PRISMA Cluster of Excellence & Mainz Institute of Theoretical Physics Johannes Gutenberg-Universit?t Mainz Department of Modern Physics University of Science and Technology of China Department of Physics & Astronomy University of Pittsburgh Tsung-Dao Lee Institute Department of Physics National Taiwan University Department of Physics University of Washington Department of Physics Nanjing University School of Nuclear Science and Technology University of South China Department of Physics University of Texas at Dallas Department of Physics and Center for High Energy and High Field Physics National Central University Institute of Frontier and Interdisciplinary Science and key {1. of Particle Physics and Particle Irradiation (MOE) Shandong University Department of Physics Hong Kong University of Science and Technology Theoretical Physics Department Fermi National Accelerator Laboratory Maryland Center for Fundamental Physics Department of Physics University of Maryland School of Physics and Institute for Collider Particle Physics University of the Witwatersrand iThemba LABS National Research Foundation Vinca Institute of Nuclear Sciences University of Belgrade Department of Physics University of Michigan Center for Theoretical Physics of the Universe Institute of Basic Science Department of Physics University of Arizona Department of Physics University of Chicago Lawrence Berkeley National laboratory Chi

The discovery of the Higgs boson with its mass around 1.0} GeV by the ATLAS and CMS Collaborations marked the beginning of a new era in high energy *** Higgs boson will be the subject of extensive studies of the ongoing LHC *** the same time,lepton collider based Higgs factories have been proposed as a possible next step beyond the LHC,with its main goal to precisely measure the properties of the Higgs boson and probe potential new physics associated with the Higgs *** Circular Electron Positron Collider(CEPC)is one of such proposed Higgs *** CEPC is an e^+e^- circular collider proposed by and to be hosted in *** in a tunnel of approximately 1.0 km in circumference,it will operate at a center-of-mass energy of 2.0 GeV as the Higgs *** this paper,we present the first estimates on the precision of the Higgs boson property measurements achievable at the CEPC and discuss implications of these measurements.

关键词： CEPC Higgs bos on Higgs boson properties Higgs boson couplings Higgs factory effective field theory,EFT

经典型同型半胱氨酸尿症1.例临床及CBS基因分析

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中华儿科杂志 2022年第6期60卷 533-538页

作者：李东晓陈哲晖金颖宋金青李梦秋刘玉鹏李溪远陈永兴张一宁吕国悦孙丽莹朱志军张尧杨艳玲郑州大学附属儿童医院河南省儿童遗传代谢性疾病重点实验室郑州450018 北京大学第一医院儿科北京100034 郑州大学附属儿童医院内分泌遗传代谢科郑州450018 吉林大学白求恩第一医院儿科长春130021 首都医科大学附属北京友谊医院普外科北京100050

目的分析经典型同型半胱氨酸尿症患儿的临床特点和CBS基因变异情况,探讨个体化治疗方法及预防。方法回顾性分析2.1.年1.月至2.2.年6月就诊于郑州大学附属儿童医院及北京大学第一医院儿科的1.例经典型同型半胱氨酸尿症患儿的一般情况、... 详细信息

目的分析经典型同型半胱氨酸尿症患儿的临床特点和CBS基因变异情况,探讨个体化治疗方法及预防。方法回顾性分析2.1.年1.月至2.2.年6月就诊于郑州大学附属儿童医院及北京大学第一医院儿科的1.例经典型同型半胱氨酸尿症患儿的一般情况、临床表现、实验室检查、头颅影像学、CBS基因变异特点、诊断及治疗等资料。结果1.例患儿中男6例,女7例,确诊年龄为1.日龄至1.岁。3例为新生儿筛查检出,无症状时开始治疗,余1.例于1.6岁发病,5~1.岁时确诊,主要表现为马凡综合征样体型、晶状体脱位和(或)近视、发育落后、骨质疏松及心脑血管疾病。4例脑磁共振成像示不对称梗死灶,1.示髓鞘形成低下。1.例患儿血清蛋氨酸、血清总同型半胱氨酸及尿液总同型半胱氨酸均增高,尿液甲基丙二酸正常,符合经典型同型半胱氨酸尿症。1.例患儿CBS基因共检出1.种变异,其中1.种为新变异、8种为已知变异。仅1.为维生素B6部分反应型,1.0}为维生素B6无反应型,均以低蛋氨酸饮食及甜菜碱治疗为主,3例疗效不良患儿分别于3、8、8岁进行了肝移植治疗,术后1.内血液蛋氨酸及同型半胱氨酸恢复正常。1.患儿死亡。1.患儿母亲再孕时进行产前诊断,羊水细胞CBS基因存在与患儿相同的致病变异。结论经典型同型半胱氨酸尿症临床表现复杂多样,血氨基酸、血清及尿液总同型半胱氨酸和基因分析是诊断的关键。检出1.种CBS基因新变异,扩展了CBS基因变异谱。肝移植为有效的治疗办法。产前诊断是防控经典型同型半胱氨酸尿症的重要措施。

关键词：肝移植经典型同型半胱氨酸尿症同型半胱氨酸蛋氨酸基因,CBS

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78例丙酸血症患者的基因型和表型分析

中华预防医学杂志 2022年第9期56卷 1263-1271页

作者：马雪刘怡陈哲晖张尧董慧宋金青金颖李梦秋康路路贺薷萱丁圆李东晓郑宏孙丽莹朱志军杨艳玲曹永彤北京大学第一医院儿科北京100034 中日友好医院检验科北京100029 郑州大学附属第一医院儿科郑州450052 首都医科大学附属北京儿童医院呼吸二科北京100045 首都医科大学附属北京儿童医院内分泌遗传代谢中心北京100045 郑州大学附属儿童医院河南省儿童遗传代谢性疾病重点实验室郑州450053 河南中医药大学第一附属医院儿科郑州450099 首都医科大学附属北京友谊医院普外科北京100050

目的丙酸血症是由于丙酰辅酶A羧化酶(propionyl CoA carboxylase, PCC)缺乏导致的罕见遗传代谢病, 本研究拟分析我国丙酸血症患者的临床特点和基因突变类型, 并初步探讨临床表型与基因型的关系。方法单中心的回顾性、观察性研究, 来自我... 详细信息

目的丙酸血症是由于丙酰辅酶A羧化酶(propionyl CoA carboxylase, PCC)缺乏导致的罕见遗传代谢病, 本研究拟分析我国丙酸血症患者的临床特点和基因突变类型, 并初步探讨临床表型与基因型的关系。方法单中心的回顾性、观察性研究, 来自我国2.个省自治区直辖市的78例丙酸血症患者, 男46例, 女32., 于2.07年1.至2.2.年4月就诊, 初诊年龄7 d至1.岁, 就其临床表现、生化代谢异常、基因变异、诊断、治疗及转归进行研究, 采用χ2.验或Mann-WhitneyU检验进行统计学分析。结果 78例患者中, 6例(7.7%)为新生儿筛查发现, 于无症状时开始治疗。72.(92.3%)为发病后临床诊断, 发病年龄为2.h至1.岁, 确诊年龄7 d至1.岁, 其中早发型32., 晚发型40例。患者的首发临床表现包括嗜睡、肌张力低下、呕吐、喂养困难、发育落后、惊厥及昏迷等。74例接受基因分析的患者中, 35例(47.3%)有PCCA基因变异, 39例(52.7%)有PCCB基因变异。PCCA最常见的变异为c.2.02.>A和c.2.9C>T, 等位基因频率分别为1..4%和1..0%;PCCB最常见的变异是c.838dupC和c.1.87T>C, 等位基因频率分别为1..1.和1..3%。PCCB c.1.0}8C>T和c.1.0}3C>T可能与早发型丙酸血症相关, PCCA c.2.02.>A及PCCB c.838dupC、c.1.2.G>T和c.1.1.A>G可能与晚发型丙酸血症相关。新生儿筛查发现的6例患儿于无症状时开始治疗, 发育基本正常。发病后临床诊断的72.有不同程度的合并症, 其中1.例(1.0}8%)死亡, 62.经左卡尼汀及饮食等代谢干预后好转。6例患儿仍有频繁代谢危象发作, 进行了肝移植, 术后临床症状改善。结论丙酸血症的临床表现复杂, 缺乏特异性, 多数患者预后不良。新生儿筛查和临床高危筛查有助于早期治疗和改善预后。丙酸血症基因型与表型的关系尚不明确, 但某些基因变异可能与早发型或晚发型丙酸血症有关。

关键词：代谢疾病丙酸血症基因病丙酰辅酶A羧化酶