一例X染色体结构重排导致DMD疾病

假肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种最常见的进行性肌营养不良疾病,呈X-连锁隐性遗传,主要由DMD基因的缺失、重复及点突变所致,极少数病例是由于染色体结构重排破坏了DMD基因而引起疾病的发生。本文报告了1例经多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)和下一代测序检测后原因未明的、具有典型症状的DMD患者。采用核型分析、FISH分析及三代测序、Sanger测序综合分析发现,患者存在母源性的X染色体臂间倒位(Chr.X:g.[31939463–31939465del;31939466–131765063 inv;131765064–131765067del])半合子变异。由于该变异破坏了DMD基因和HS6ST2基因,因此推测该变异是患者发病的遗传学病因。患者表现肌无力等典型的DMD症状,没有明显的Paganini-Miozzo综合征相关症状。本病例的明确诊断,提示结构重排破坏DMD基因也是导致DMD重要原因之一;常规遗传学检测阴性的患者应考虑核型分析、FISH验证等结构重排变异检测技术,通过三代测序技术能确定大概的重排断点位置,Sanger测序可明确断点区域序列。本病例报告通过明确的遗传学诊断为该患者所在家庭进行生殖干预、降低再生育风险提供了诊疗基础。

Investigations on ion implantation-induced strain in rotated Y-cut LiNbO_(3) and LiTaO_(3)

The monocrystalline LiNbO_(3)(LN)and LiTaO_(3)(LT)plates have been qualified as a kind of material platform for high performance RF filter that is considerable for the 5G communication.LN and LT thin films are usually transferred on handle wafers by combining ion-slicing and wafer bonding technique to form a piezoelectric on insulator(POI)substrate.The ion implantation is a key process and the implantation-induced strain is essential for the layer transfer.Here,we reported the strain profile of ion implanted rotated Y-cut LN and LT.The ion implantation generates the out-of-plane tensile strain of the sample surface and(006)plane,while both the tensile and compressive strain are observed on the(030)plane.The implanted ions redistributed due to the anisotropy of LN and LT,and induce the main tensile normal to the(006)plane.Meanwhile,the(030)planes are contracted due to the Poisson effect with the interstitial ions disturbing and mainly show a compressive strain profile.

The quasi-activity coefficients of non-electrolytes in aqueous solution with organic ions and its application on the phase splitting behaviors prediction for CO_(2) absorption

CO_(2)capture with a low energy consumption is of important application significance for reducing CO_(2)emission.The phase-change absorbent developed in recent years shows its potential for low-energy CO_(2)capture.The unclear phase-splitting rule hinders the efficient development of CO_(2)phase-change absorbents.To predict phase-splitting behaviors of mono/poly-amine-organic solvent-water system with various concentrations,a quasi-activity coefficient was developed based on Debye&Mc Aulay equation and some Density function theory descriptors.Six models based on Debye&Mc Aulay equation were developed with different ion radius,descriptors or poly-amine-CO_(2)products.The phase-splitting boundary was drawn on the model with the best predictability.This quasi-activity coefficient would provide guidance for the phase-splitting systems development,especially for polyamines.

Differential Proteomic Analysis of Wheat Roots under Different Levels of Potassium

[ Objective ] This study aimed to investigate the regulatory role of potassium levels in plant gene expression. [ Method ] By using wheat （ Triticum aesti- vum L. Beinong 9549） as experimental material, the protein expression in wheat roots under different levels of potassium was determined by two-dimensional elec- trophoresis （2-DE）. [ Result] Compared with the plants supplied with normal level of potassium, 152 protein spots in wheat roots under potassium deficiency con- dition showed significant differences （P 〈 0.05 ）, including 76 protein spots significantly up-regulated by more than twice and 76 protein spots significantly down- regulated by more than twice. After potassium deficiency treatment, the wheat plants were supplied with normal level of potassium for two weeks, which showed sig- nificant differences in 73 protein spots compared with the plants continuously supplied with normal level of potassium （ P 〈 0. 05 ）, including 36 protein spots signif- icantly up-regulated by more than twice and 37 protein spots significantly down-regulated by more than twice. [ Conclusion] This study indicates that potassium de- ficiency stress would lead to induction of a large number of specific proteins in wheat roots.

A Graphical Analysis on Compensation Designs of Large-gap CPT systems for EV Charging Applications

Capacitive power transfer(CPT)technology is a newly emerging research focus for EV charging applications.Due to the absence of eddy current loss and light weight of the capacitive coupling metal plates,CPT technology is considered to be a promising alternative to the inductive power transfer(IPT)technology.In this paper,the recent designs of large-gap CPT systems designed for EV charging applications are summarized.And a graphical method based on Smith chart is proposed to analyze the characteristics of the compensation designs.With the design objectives graphically represented,the Smith chart can be used to visually analyze the performance of a compensation design,which could be helpful in multi-objectives design of the CPT system.The graphic features of three major design objectives on the Smith chart are investigated.Several guidelines of a good compensation design are concluded.

∼2.5 nm pores in carbon-based cathode promise better zinc-iodine batteries

The relationship mechanism between the material pore structures and cathodic iodine chemistry plays a vital role in efficient Zn-I_(2) batteries,but is unclear,retarding further advances.This work innovatively indicates a great contribution of∼2.5nm pore structure of nanocarbons to efficient iodine adsorption,rapid I^(−)↔I_(2) conversion,and polyiodide inhibition,via scrupulously designing catalysts with controllable pore sizes systematically.The I_(2)-loading within the designed nitrogen-doped nanocarbons can reach up to as high as 60.8 wt%.The batteries based on the cathode deliver impressive performances with a large capacity of 178.8 mAh/g and long-term cycling stability more than 4000 h at 5.0 C.Notably,these is no polyiodide such as I_(3)−and I_(5)−detected during the charge-discharge processes from comprehensive electrochemical cyclic voltammetry,X-ray photoelectron spectroscopy,and Raman technique.This work provides a novel knowledge-guided concept for rational pore design,promising better Zn-I_(2) batteries,which is also hoped to benefit other advanced energy technologies,such as Li-S,Li-ion,and Al-I_(2) batteries.

京津风沙源土壤风蚀时空格局及其演化

为了控制土壤风蚀及其产生的沙尘释放对京津地区大气环境的影响,中国政府于21世纪初实施了具有重要战略意义的京津风沙源治理工程.通过植树种草、轮牧禁牧、土地利用优化等措施,丰富了区内生物多样性,提高了区内植被盖度,生态环境得到一定程度的改善.基于野外调查、室内实验、遥感影像反演以及气象数据,本文采用《全国水土流失动态监测规划(2018~2022年)》和《区域水土流失动态监测技术规定(试行)》中指定的土壤风蚀模型,计算了京津风沙源治理以来典型年份、土地利用变化和气候变化共计3种情形下土壤风蚀,揭示了京津风沙源土壤风蚀模数和强度的时空格局及其演化规律,明确了土地利用变化、气候变化对京津风沙源土壤风蚀时空格局的影响,发现气候变化导致风蚀模数和面积的变率,与当年对应的变率相当,大于土地利用变化的影响.此外,土地利用变化情形风蚀面积总体减少,尤其是2010~2015年间减小了4.10%,说明京津风沙源治理工程发挥了重要作用,为京津风沙源治理工程效益评估以及优化布局提供科学依据.

大体积微孔和富吡啶氮掺杂的纳米多孔碳高效吸附碘用于高能量密度和长寿命Zn-I_(2)水电池

水系锌碘电池(AZIBs)是一种非常受欢迎的绿色储能技术,但它的能量密度极大地限制了其应用.在此,我们报道了一种高能量密度的可充电AZIBs,通过将高质量碘锚定到具有大微孔体积和富吡啶氮掺杂的独特分级多孔碳中来实现.多孔碳结合了微孔对碘的强约束和氮掺杂对碘的强化学吸附的优点,可使碘的负载量高达61.6 wt%.密度泛函理论计算和实验研究表明,氮掺杂所赋予的丰富活性位点能促进AZIBs的氧化还原动力学,吡啶氮掺杂对AZIBs的吸附可逆转化比普通氮掺杂更有效.高负载碘电极在1.0 C时表现出219.3 mA h g^(-1)的高容量,优异的速率性能,以及优越的循环稳定性,在5.0 C时,循环10,000次内的容量衰减极低,每圈仅为0.00147%.由三节电池串联的初步装置,能量密度高,按电池总质量计算可达72.6 W h kg^(-1),几乎是商用铅酸和镍-镉电池能量密度的两倍.该水系电池的高能量密度和长循环寿命使其在大规模储能应用领域具有巨大潜力.

Si-based InGaAs photodetectors on heterogeneous integrated substrate

In this paper,InGaAs p-i-n photodetectors(PDs)on an InP/SiO2/Si(InPOI)substrate fabricated by ion-slicing technology are demonstrated and compared with the identical device on a commercial InP substrate.The quality of epitaxial layers on the InPOI substrate is similar to that on the InP substrate.The photo responsivities of both devices measured at 1.55μm are comparable,which are about 0.808-0.828 A W^(-1).Although the dark current of PD on the InPOI substrate is twice as high as that of PD on the InP substrate at 300 K,the peak detectivities of both PDs are comparable.In general,the overall performance of the InPOI-based PD is comparable to the InP-based PD,demonstrating that the ion-slicing technology is a promising route to enable the highquality Si-based InP platform for the full photonic integration on a Si substrate.