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| 1 | Dark matter direct search sensitivity of the PandaX-4T experiment显示文摘The Panda X-4T experiment, a 4-ton scale dark matter direct detection experiment, is being planned at the China Jinping Underground Laboratory. In this paper we present a simulation study of the expected background in this experiment. In a 2.8-ton fiducial mass and the signal region between 1-10 keV electron equivalent energy, the total electron recoil background is found to be 4.9 × 10^(-5) kg^(-1) d^(-1) keV^(-1). The nuclear recoil background in the same region is 2.8 × 10^(-7) kg^(-1) d^(-1) keV^(-1). With an exposure of 5.6 ton-years, the sensitivity of Panda X-4 T could reach a minimum spin-independent dark matter-nucleon cross section of 6 × 10^(-48) cm^2 at a dark matter mass of 40 Ge V/c^2. | HongGuang Zhang Abdusalam Abdukerim Wei Chen Xun Chen YunHua Chen XiangYi Cui BinBin Dong DeQing Fang ChangBo Fu Karl Giboni Franco Giuliani LinHui Gu XuYuan Guo ZhiFan Guo Ke Han ChangDa He ShengMing He Di Huang XingTao Huang Zhou Huang Peng Ji XiangDong Ji YongLin Ju ShaoLi Li Yao Li Heng Lin HuaXuan Liu JiangLai Liu YuGang Ma YaJun Mao KaiXiang Ni JinHua Ning XiangXiang Ren Fang Shi AnDi Tan AnQing Wang Cheng Wang HongWei Wang Meng Wang QiuHong Wang SiGuang Wang XiuLi Wang XuMing Wang Zhou Wang MengMeng Wu ShiYong Wu JingKai Xia MengJiao Xiao PengWei Xie BinBin Yan JiJun Yang Yong Yang ChunXu Yu JuMin Yuan JianFeng Yue Dan Zhang Tao Zhang Li Zhao QiBin Zheng JiFang Zhou Ning Zhou XiaoPeng Zhou | 2019 | Science China(Physics,Mechanics & Astronomy)2019，62，3： | 6 |
| 2 | Properties and Structure of Microcrystal Muscovite Composite Superabsorbent显示文摘Microcrystal muscovite composite superabsorbents(MMCSA) were prepared by water solution polymerization using acrylic acid, acrylamide and itaconic acid as comonomers and microcrystal muscovite as an inorganic additive. Properties, such as water absorbency, salt absorbency, gel strength, water retention capacity and structure of MMCSA characterized by SEM and XRD, were investigated. Water absorbency, salt absorbency, gel strength, water retention capacity and thermostability were enhanced by incorporation of suitable amount of microcrystal muscovite. Water absorption of MMCSA was rapid, requiring 24.55 min to reach 63% of equilibrium absorbency(1218 g/g). Microcrystal muscovite was physically combined into the polymeric network without destroying its polycrystalline structure and microcrystal muscovite composite superabsorbent had some irregular, undulant, and small microporous holes with sheet-like microcrystal muscovite distributed in the polymeric matrix. | 万涛 XIONG Lei HUANG Runqiu SUN Mengmeng QIN Lili TAN Xuemei HU Junyan | 2014 | Journal of Wuhan University of Technology(Materials Science)2014，29，6： | 2 |
| 3 | 2020 roadmap on two-dimensional materials for energy storage and conversion显示文摘Energy storage and conversion have attained significant intere st owing to its important applications that reduce CO2 emission through employing green energy.Some promising technologies are included metalair batteries,metal-sulfur batteries,metal-ion batteries,electrochemical capacitors,etc.Here,metal elements are involved with lithium,sodium,and magnesium.For these devices,electrode materials are of importance to obtain high performance.Two-dimensional(2 D) materials are a large kind of layered structured materials with promising future as energy storage materials,which include graphene,black phosporu s,MXenes,covalent organic frameworks(COFs),2 D oxides,2 D chalcogenides,and others.Great progress has been achieved to go ahead for 2 D materials in energy storage and conversion.More researchers will join in this research field.Under the background,it has motivated us to contribute with a roadmap on ’two-dimensional materials for energy storage and conversion. | Baolin Xu Shihan Qi Mengmeng Jin Xiaoyi Cai Linfei Lai Zhouting Sun Xiaogang Han Zifeng Lin Hui Shao Peng Peng Zhonghua Xiang Johan E.ten Elshof Rou Tan Chen Liu Zhaoxi Zhang Xiaochuan Duan Jianmin Ma | 2019 | Chinese Chemical Letters2019，30，12： | 2 |
| 4 | Recovery of rare and precious metals from urban mines —— A review显示文摘 | Mengmeng Wang Quanyin Tan Joseph F. Chiang Jinhui Li | 2017 | Frontiers of Environmental Science & Engineering2017，11，5： | 2 |
| 5 | Continuous culture of urine-derived bladder cancer cells for precision medicine显示文摘Dear Editor,Bladder cancer is the most common type of genitourinary cancer in China,with an estimated 80,500 new cases and 32,900 related deaths in 2015 alone(Chen et al.,2016).Unlike many other cancers,there has been no significant improvement in survival rates for bladder cancer over the last three decades.Specific treatment regimens for bladder cancer and their efficacy vary depending not only on clinical stages,but also on associated risk factors and other personal clinical characteristics.Patients with non-muscle invasive bladder cancer(NMIBC)have a high 5-year recurrence rate of 60%-70%(Berdik,2017)and those with muscle invasive bladder cancer(MIBC)has a relatively poor prognosis with approximately 65%risk of death within 5-year follow-up(Kamat et al.,2016).Therefore,there is an urgent need to develop models for bladder cancer to screen for rational treatment strategies by personalized medicine to improve the clinical assessment and treatment of bladder cancer. | Shuai Jiang Jiaqi Wang Chen Yang Renke Tan Jun Hou Yuan Shi Huihui Zhang Shiyu Ma Jianan Wang Mengmeng Zhang George Philips Zengxia Li Jian Ma Wanjun Yu Guohua Wang Yuanming Wu Richard Schlegel Huina Wang Shanbo Cao Jianming Guo Xuefeng Liu Yongjun Dang | 2019 | Protein & Cell2019，10，12： | 1 |
| 6 | The genomic and bulked segregant analysis of Curcuma alismatifolia revealed its diverse bract pigmentation显示文摘Compared with most flowers where the showy part comprises specialized leaves(petals)directly subtending the reproductive structures,most Zingiberaceae species produce showy“flowers”through modifications of leaves(bracts)subtending the true flowers throughout an inflorescence.Curcuma alismatifolia,belonging to the Zingiberaceae family,a plant species originating from Southeast Asia,has become increasingly popular in the flower market worldwide because of its varied and esthetically pleasing bracts produced in different cultivars.Here,we present the chromosome-scale genome assembly of C.alismatifolia“Chiang Mai Pink”and explore the underlying mechanisms of bract pigmentation.Comparative genomic analysis revealed C.alismatifolia contains a residual signal of whole-genome duplication.Duplicated genes,including pigment-related genes,exhibit functional and structural differentiation resulting in diverse bract colors among C.alismatifolia cultivars.In addition,we identified the key genes that produce different colored bracts in C.alismatifolia,such as F3′5'H,DFR,ANS and several transcription factors for anthocyanin synthesis,as well as chlH and CAO in the chlorophyll synthesis pathway by conducting transcriptomic analysis,bulked segregant analysis using both DNA and RNA data,and population genomic analysis.This work provides data for understanding the mechanism of bract pigmentation and will accelerate breeding in developing novel cultivars with richly colored bracts in C.alismatifolia and related species.It is also important to understand the variation in the evolution of the Zingiberaceae family. | Xuezhu Liao Yuanjun Ye Xiaoni Zhang Dan Peng Mengmeng Hou Gaofei Fu Jianjun Tan Jianli Zhao Rihong Jiang Yechun Xu Jinmei Liu Jinliang Yang Wusheng Liu Luke RTembrock Genfa Zhu Zhiqiang Wu | 2022 | aBIOTECH2022，3，3： | 1 |
| 7 | Atomic force microscopy analysis of orientation and bending of oligodeoxynucleotides in polypod-like structured DNA显示文摘我们以前证明象多足一样组织了 DNA,或 polypodna,与三或更构造了 oligodeoxynucleotides (ODN ) ,被象树枝状的房间和巨噬细胞那样的有免疫力的房间高效地收起,取决于它的结构的复杂性。包括 polypodna 的 ODN 应该弯曲形成象多足一样结构,并且可以那么由采用 bendtype 符合构造或跨类型的符合构造做。这里,我们试着阐明取向并且用原子力量显微镜学(AFM ) 在 polypodnas ODN 弯曲。我们设计了 pentapodnas 的二种类型(即,有五个豆荚的 polypodna ) 使用 60- 到 88 底 ODN,它然后在 DNA origami 上被使不能调动装裱。AFM 成像证明在 pentapodna 的 ODN 采用了拐弯类型符合构造。当他们在非强迫的条件下面在框架上被使不能调动时, Tetrapodna 和 hexapodna 也采用了拐弯类型符合构造。这些调查结果提供向协调设计的有用信息,和 structureactivity 关系为,许多 DNA nanostructures。 | Tomoki Shiomi Mengmeng Tan Natsuki Takahashi Masayuki Endo Tomoko Emura Kumi Hidaka Hiroshi Sugiyama Yuki Takahashi Yoshinobu Takakura Makiya Nishikawa | 2015 | Nano Research2015，8，12： | 1 |
| 8 | Identification of gas/liquid two-phase flow regime through ERT-based measurement and feature extraction显示文摘 | TAN Chao DONG Feng WU Mengmeng | 2007 | Flow Measurementand Instrumentation2007，18，： | 1 |
| 9 | High-throughput screening of SARS-CoV-2 main and papain-like protease inhibitors显示文摘The global COVID-19 coronavirus pandemic has infected over 109 million people,leading to over 2 million deaths up to date and still lacking of effective drugs for patient treatment.Here,we screened about 1.8 million small molecules against the main protease(M^(pro))and papain like protease(PL^(pro)),two major proteases in severe acute respiratory syndrome-coronavirus 2 genome,and identified 1851M^(pro)inhibitors and 205 PL^(pro)inhibitors with low nmol/l activity of the best hits.Among these inhibitors,eight small molecules showed dual inhibition effects on both M^(pro)and PL^(pro),exhibiting potential as better candidates for COVID-19 treatment.The best inhibitors of each protease were tested in antiviral assay,with over 40%of M^(pro)inhibitors and over 20%of PL^(pro)inhibitors showing high potency in viral inhibition with low cytotoxicity.The X-ray crystal structure of SARS-CoV-2 M^(pro)in complex with its potent inhibitor 4a was determined at 1.8Åresolution.Together with docking assays,our results provide a comprehensive resource for future research on anti-SARS-CoV-2 drug development. | Yi Zang Mingbo Su Qingxing Wang Xi Cheng Wenru Zhang Yao Zhao Tong Chen Yingyan Jiang Qiang Shen Juan Du Qiuxiang Tan Peipei Wang Lixin Gao Zhenming Jin Mengmeng Zhang Cong Li Ya Zhu Bo Feng Bixi Tang Han Xie Ming-Wei Wang Mingyue Zheng Xiaoyan Pan Haitao Yang Yechun Xu Beili Wu Leike Zhang Zihe Rao Xiuna Yang Hualiang Jiang Gengfu Xiao Qiang Zhao Jia Li | 2023 | Protein & Cell2023，14，1： | 0 |
| 10 | An improved evaluation of the neutron background in the PandaX-Ⅱ experiment显示文摘In dark matter direct detection experiments,neutron is a serious source of background,which can mimic the dark matter-nucleus scattering signals.In this paper,we present an improved evaluation of the neutron background in the PandaX-II dark matter experiment by a novel approach.Instead of fully relying on the Monte Carlo simulation,the overall neutron background is determined from the neutron-induced high energy signals in the data.In addition,the probability of producing a dark-matter-like background per neutron is evaluated with a complete Monte Carlo generator,where the correlated emission of neutron(s)andγ(s)in the(α,n)reactions and spontaneous fissions is taken into consideration.With this method,the neutron backgrounds in the Run 9(26-ton-day)and Run 10(28-ton-day)data sets of PandaX-II are estimated to be(0.66±0.24)and(0.47±0.25)events,respectively. | QiuHong Wang Abdusalam Abdukerim Wei Chen Xun Chen YunHua Chen XiangYi Cui YingJie Fan DeQing Fang ChangBo Fu LiSheng Geng Karl Giboni Franco Giuliani LinHui Gu XuYuan Guo Ke Han ChangDa He Di Huang Yan Huang YanLin Huang Zhou Huang Peng Ji XiangDong Ji YongLin Ju YiHui Lai Kun Liang HuaXuan Liu JiangLai Liu WenBo Ma YuGang Ma YaJun Mao Yue Meng Parinya Namwongsa KaiXiang Ni JinHua Ning XuYang Ning XiangXiang Ren ChangSong Shang Lin Si AnDi Tan AnQing Wang HongWei Wang Meng Wang SiGuang Wang XiuLi Wang Zhou Wang MengMeng Wu ShiYong Wu JingKai Xia MengJiao Xiao PengWei Xie BinBin Yan JiJun Yang Yong Yang ChunXu Yu Jumin Yuan Dan Zhang HongGuang Zhang Tao Zhang Li Zhao QiBin Zheng JiFang Zhou Ning Zhou XiaoPeng Zhou | 2020 | Science China(Physics,Mechanics & Astronomy)2020，63，3： | 0 |
| 11 | Constraining self-interacting dark matter with the full dataset of PandaX-II显示文摘Self-interacting dark matter(SIDM)is a leading candidate proposed to solve discrepancies between predictions of the prevailing cold dark matter theory and observations of galaxies.Many SIDM models predict the existence of a light force carrier that mediates strong dark matter self-interactions.If the mediator couples to the standard model particles,it could produce characteristic signals in dark matter direct detection experiments.We report searches for signals of SIDM models with a light mediator using the full dataset of the PandaX-II experiment,basing on a total exposure of 132 tonne-days.No significant excess over background is found,and our likelihood analysis leads to a strong upper limit on the dark matter-nucleon coupling strength.We further combine the PandaX-II constraints and those from observations of the light element abundances in the early universe,and show that direct detection and cosmological probes can provide complementary constraints on dark matter models with a light mediator. | Jijun Yang Abdusalam Abdukerim Wei Chen Xun Chen Yunhua Chen Chen Cheng Xiangyi Cui Yingjie Fan Deqing Fang Changbo Fu Mengting Fu Lisheng Geng Karl Giboni Linhui Gu Xuyuan Guo Ke Han Changda He Shengming He Di Huang Yan Huang Ran Huo Yanlin Huang Zhou Huang Xiangdong Ji Yonglin Ju Shuaijie Li Qing Lin Huaxuan Liu Jianglai Liu Xiaoying Lu Wenbo Ma Yugang Ma Yajun Mao Yue Meng Nasir Shaheed Kaixiang Ni Jinhua Ning Xuyang Ning Xiangxiang Ren Changsong Shang Guofang Shen Lin Si Andi Tan Anqing Wang Hongwei Wang Meng Wang QiuHong Wang Siguang Wang Wei Wang Xiuli Wang Zhou Wang Mengmeng Wu Shiyong Wu Weihao Wu Jingkai Xia Mengjiao Xiao Xiang Xiao Pengwei Xie Binbin Yan Yong Yang Chunxu Yu Hai-Bo Yu Jumin Yuan Ying Yuan Xinning Zeng Dan Zhang Tao Zhang Li Zhao Qibin Zheng Jifang Zhou Ning Zhou Xiaopeng Zhou | 2021 | Science China(Physics,Mechanics & Astronomy)2021，64，11： | 0 |
| 12 | Determination of Double Beta Decay Half-Life of 136Xe with the PandaX-4T Natural Xenon Detector显示文摘Precise measurement of two-neutrino double beta decay(DBD)half-life is an important step for the searches of Majorana neutrinos with neutrinoless double beta decay.We report the measurement of DBD half-life of 136xe using the Pandax-4T dual-phase Time Projection Chamber(TPC)with 3.7-tonne natural xenon and the first 94.9-day physics data release. | Lin Si Zhaokan Cheng Abdusalam Abdukerim Zihao Bo Wei Chen Xun Chen Yunhua Chen Chen Cheng Yunshan Cheng Xiangyi Cui Yingjie Fan Deqing Fang Changbo Fu Mengting Fu Lisheng Geng Karl Giboni Linhui Gu Xuyuan Guo Ke Han Changda He Jinrong He Di Huang Yanlin Huang Zhou Huang Ruquan Hou Xiangdong Ji Yonglin Ju Chenxiang Li Jiafu Li Mingchuan Li Shu Li Shuaijie Li Qing Lin Jianglai Liu Xiaoying Lu Lingyin Luo Yunyang Luo Wenbo Ma Yugang Ma Yujun Mao Yue Meng Nasir Shaheed Xiaofeng Shang Xuyang Ning Ningchun Qi Zhicheng Qian Xiangxiang Ren Changsong Shang Guofang Shen Wenliang Sun Andi Tan Yi Tao Anqing Wang Meng Wang Qiuhong Wang Shaobo Wang Siguang Wang Wei Wang Xiuli Wang Zhou Wang Yuehuan Wei Mengmeng Wu Weihao Wu Jingkai Xia Mengjiao Xiao Xiang Xiao Pengwei Xie Binbin Yan Xiyu Yan Yong Yang Chunxu Yu Jumin Yuan Ying Yuan Zhe Yuan Dan Zhang Minzhen Zhang Peng Zhang Shibo Zhang Shu Zhang Tao Zhang Li Zhao Qibin Zheng Jifang Zhou Ning Zhou Xiaopeng Zhou Yong Zhou | 2023 | Research2023，，2： | 0 |
| 13 | Cardiac energy metabolism disorder mediated by energy substrate imbalance and mitochondrial damage upon tebuconazole exposure显示文摘Tebuconazole exposure has been described as an increasing hazard to human health.An increasing number of recent studies have shown a positive association between tebuconazole exposure and cardiovascular disease risk,which is characterized by the reduction of adenosine triphosphate(ATP)synthesis.However,researches on the damage of tebuconazole exposure to energy metabolism and the related molecular mechanisms are limited.In the present study,male C57BL/6 mice were treated with tebuconazole at different low concentrations for 4 weeks.The results indicated that tebuconazole could accumulate in the heart and further induce the decrease of ATP content in the mouse heart.Importantly,tebuconazole induced an obvious shift in substrate utilization of fatty acid and glucose by disrupting their corresponding transporters(GLUT1,GLUT4,CD36,FABP3 and FATP1)expression,and significantly repressed the expression of mitochondrial biogenesis(Gabpa and Tfam)and oxidative phosphorylation(CS,Ndufa4,Sdhb,Cox5a and Atp5b)related genes in a dosedependent manner.Further investigation revealed that these alterations were related to the IRS1/AKT and PPARγ/RXRαpathways.These findings contribute to a better understanding of triazole fungicide-induced cardiovascular disease by revealing the key indicators associated with this phenomenon. | Tingting Ku Jindong Hu Mengmeng Zhou Yuanyuan Xie Yutong Liu Xin Tan Lin Guo Guangke Li Nan Sang | 2024 | Journal of Environmental Sciences2024，，2： | 0 |
| 14 | Intratumoural microbiota:a new frontier in cancer development and therapy显示文摘Human microorganisms,including bacteria,fungi,and viruses,play key roles in several physiological and pathological processes.Some studies discovered that tumour tissues once considered sterile actually host a variety of microorganisms,which have been confirmed to be closely related to oncogenesis.The concept of intratumoural microbiota was subsequently proposed.Microbiota could colonise tumour tissues through mucosal destruction,adjacent tissue migration,and hematogenic invasion and affect the biological behaviour of tumours as an important part of the tumour microenvironment.Mechanistic studies have demonstrated that intratumoural microbiota potentially promote the initiation and progression of tumours by inducing genomic instability and mutations,affecting epigenetic modifications,promoting inflammation response,avoiding immune destruction,regulating metabolism,and activating invasion and metastasis.Since more comprehensive and profound insights about intratumoral microbiota are continuously emerging,new methods for the early diagnosis and prognostic assessment of cancer patients have been under examination.In addition,interventions based on intratumoural microbiota show great potential to open a new chapter in antitumour therapy,especially immunotherapy,although there are some inevitable challenges.Here,we aim to provide an extensive review of the concept,development history,potential sources,heterogeneity,and carcinogenic mechanisms of intratumoural microorganisms,explore the potential role of microorganisms in tumour prognosis,and discuss current antitumour treatment regimens that target intratumoural microorganisms and the research prospects and limitations in this field. | Yaqi Cao Hui Xia Xueyun Tan Chunwei Shi Yanling Ma Daquan Meng Mengmeng Zhou Zhilei Lv Sufei Wang Yang Jin | 2024 | Signal Transduction and Targeted Therapy2024，9，2： | 0 |
| 15 | Overexpression of peach NAC25 promotes anthocyanin biosynthesis in poplar shoots显示文摘Anthocyanins,a categories of metabolites derived from flavonoid biosynthesis pathway,are responsible for the red color of peach.Anthocyanin metabolism is modulated by a complicated regulatory network.In this study,our results demonstrated that PpNAC25 was a component of anthocyanin regulatory network in peach.PpNAC25 showed a closed relationship with the well-known ripening-related gene NOR(no-ripening)and was highly expressed in peach fruit.Overexpression of PpNAC25 in poplar resulted in a redder shoot tips compared with EV control.PpNAC25 overexpression upregulated the anthocyanin biosynthetic and transportation genes in transcript levels and then increased anthocyanin contents.In Y1H and Luc/Ren assay,PpNAC25 bound to the promoter of the anthocyanin-activator PpMYB10.1 and PpMYB10.2 and activated its transcript.Moreover,PpNAC25 formed a heterodimer with PpNAC1,an anthocyanin-regulator.Our researches provide evidence that PpNAC25 may be a positive regulator of anthocyanin biosynthesis in peach fruit. | Mingxi Geng Yun Shao Mengmeng Zhang Xianbo Zheng Bin Tan Wei Wang Langlang Zhang Xia Ye Ming Li Jidong Li Jun Cheng Jiancan Feng | 2022 | Fruit Research2022，2，1： | 0 |
| 16 | First observation of domoic acid and its isomers in shellfish samples from Shandong Province,China显示文摘A total of 133 shellfish samples were collected in seven cities of Shandong Province,China,from May to October,2019.The domoic acid(DA)concentrations were determined by liquid chromatographytandem mass spectrometry(LC-MS/MS),and their distribution characteristics were investigated.DA concentration was detected high in over 1/3(36.1%)of the samples of four kinds of shellfish in all three seasons in range from 0 to 102μg/kg.The highest DA concentrations were 102,101,36.7,and 10.2μg/kg in Crassostrea gigas,Chlamys farreri,Mactra veneriformis,and Mytilus edulis,respectively.Geographically,Yantai(22.0μg/kg)and Weihai(16.9μg/kg)showed relatively high concentrations of DA,whereas Rizhao and Dongying presented only 0.85-and 1.76-μg/kg DA,respectively.DA concentrations in the shellfish samples were strongly related to seasonal changes,being significantly higher in autumn and summer than that in spring.The DA risk exposure assessments indicate that dietary seafood consumption did not pose a health threat to general human population.In addition,three isomers(isoA,isoD,isoE)and 5′-epimer DA were detected in 3.00%-15.80%of the shellfish samples.This study is the first to observe DA and its isomers in shellfish samples of Shandong Province.The results demonstrate that DA contamination is very common and should be continuously monitored. | Guanchao ZHENG Haiyan WU Mengmeng GUO Jixing PENG Yuxiu ZHAI Zhijun TAN | 2022 | Journal of Oceanology and Limnology2022，40，6： | 0 |
| 17 | Thermal processing induced release and degradation of paralytic shellfish toxin from mussels Mytilus edulis显示文摘Understanding the risk factors associated with shellfish consumption is a relevant public health concern because of the potential adverse ef fects of paralytic shellfish toxins(PSTs).This work aims to study the effects of the five most common heating treatments(steaming,boiling,frying,water-bath heating,and microwaving),for different processing times and temperature/power settings,on the content of PSTs in mussels(Mytilus edulis)collected in Qinhuangdao,China.The toxin concentration,removal percentages,and toxin distribution in the cooking liquor and meat were examined.The five processing modes effectively accelerated toxin release into the cooking liquor.The average percentage removal was 73.53%±16.50%from tissues.Microwaving led to the most significant toxin degradation among the methods tested.These findings should facilitate risk assessment of PSTs in mussels. | Chenfan DONG Haiyan WU Jixing PENG Mengmeng GUO Yuxiu ZHAI Zhijun TAN | 2022 | Journal of Oceanology and Limnology2022，40，6： | 0 |
| 18 | Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families显示文摘Objective:This study was to supply information of the Duchenne muscular dystrophy(DMD)mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis.Methods:In this retrospective cohort study,three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital.The mean age of pregnant women was(33.0±4.1)years old.Karyotype analysis was performed to exclude fetal abnormal karyotype.Results:The detection rate of DMD gene mutation in 303 probands was(296/303)97.7%with seven families having a negative genetic diagnosis.The mutational spectrum comprised of large arrangements in 288/303(95.0%)and small mutations in 8/303(2.6%).Carrier testing was performed among 204 pregnant women among whom,108 mothers had the same mutation as family proband.Of the 305 pregnancies underwent prenatal diagnosis,55 of 173 male fetuses were affected.We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21.We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis.We also identified two times of germline mosaicism.Conclusion:This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses.Furthermore,considering the possbility of maternl germilne mosaicism,prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not. | Mengmeng Li Na Hao Fengxia Yao Weimin Zhang Jing Zhou Li Tan Zhengqing Qiu Juntao Liu | 2021 | Maternal-Fetal Medicine2021，3，4： | 0 |
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