Maroteaux-Lamy综合征的ARSB基因分析及新突变的致病性鉴定

【目的】对7家拟诊为Maroteaux_Lamy综合征(MPSⅥ)的患儿及其父母进行ARSB基因的突变检测和新突变的致病性鉴定,以揭示其分子发病机制,为将来的产前/植入前基因诊断等创造前提条件。【方法】在临床初诊及GAG尿检和MPS酶检的基础上,抽取患儿及其父母EDTA抗凝血,进行ARSB基因的PCR扩增和Sanger测序。对所发现的新突变,在经HGMD、1000G和ExAC等数据库核实排查后,首先用SWISS-MODEL软件分析、比对突变蛋白和正常蛋白的空间构象,然后用Clustal X软件分析跨物种氨基酸的保守性,用PROVEAN、SIFT、PolyPhen-2软件预测新突变的致病性,最后用ACMG标准对新突变的致病性进行综合分析鉴定。【结果】1)7个家系先证者的基因检测结果分别为:No1:c.574T> C,p.C192R纯合错义突变;No2:c.160G> A/p.D54N(来自其母)和c.1197C> G/p.F399L(来自其父)的复合杂合子;No3:仅检出c.1072G> A/p.V358M和IVS5 as(-27)A>C变异,但酶检和临床表型符合Ⅵ型;No4:为c.281C> T,p.S94L(新突变,来自其母)和IVS5 as(-27)A> C(来自其父)的复合杂合子;No5:为c.1197 C> G,p.F399L纯合错义突变;No6:为c.1197 C> G,p.F399L(来自其母)和c.1379 C> T,p.S460F(新突变,来自其父)的复合杂合子;No7:为c.499 G> A,p.G167R(来自其父)和c.1325C>T,p.T442M(来自其母)的复合杂合子。2)新突变鉴定结果:对正常ARSB酶蛋白和p.S94L突变酶蛋白的空间构象的预测比对结果显示,两者有明显区别;跨物种保守性分析结果显示,p.94突变点所在氨基酸(S)在物种进化过程中具有高度保守性;PROVEAN、SIFT和PolyPhen-2软件对p.S94L预测结果分别为:Deleterious、Damaging和Probably damaging。用上述方法对p.S460F的预测结果及ACMG的综合分析结果也显示该突变可能是致病性的。【结论】1)家系4的p.S94L和家系6的p.S460F新突变可能都是新的致病性突变,有可能都是引起患儿发病的内在原因之一。2)家系1,2,5,6,7可以确诊为MPS Ⅵ型,其基因型和表现型具有显著的相关性,家系3虽经酶检确诊,临床症状和尿检结果也都与MPS Ⅵ型符合,但却未能在DNA水平查到明确的突变类型,其表现型与基因型的相关性还有待进一步证实。国家自然科学基金(30772069);;闽粤合作科研基金(71010025和71020010

Design of Electrical Downtilt Broadband Patch Antenna

针对室内壁挂基站应用要求,采用对称角形缝隙加载正方形贴片,实现具有电下倾辐射特性的低剖面宽带贴片天线结构。实验结果表明,设计天线S11参数小于-10db的相对阻抗带宽为5.15%。在工作频带内,天线辐射场可产生约30°的下倾角。并且可通过馈电位置的改变,实现辐射场下倾角的调整。水平平面辐射方向图表明,在120°范围内,其垂直极化辐射场要比水平极化高10db以上,表明天线具有良好的垂直线极化特性。工作频带内天线的增益约为6dbI。该天线可内置于壁挂基站以减小设备尺寸。To meet the requirements of electrical downtilt beam patterns and broad bandwidth for the indoor wallmounted base-station antennas,a symmetrically right-angled slot is loaded into the low-profile square patch antenna.The experimental results show that the relative impedance bandwidth with the parameter S11less than-10dB is 5.15% for the designed antenna.Over the operating frequency band,the electrical downtilt of radiation beams is about 30°.Meanwhile the downtilt can be adjusted by changing the feed position.In the angle range 120° of the horizontal plane pattern,the radiation level of the vertically polarized electric field is 10dB higher than the horizontal polarization,which indicates that the antenna has the radiation characteristics of vertically linear polarization.Over the working band the antenna gain is about 6dBi.The presented antenna can be built into the wall-mounted base station to reduce the device size.福建省重大科技专项(2010HZ0004-1

潮滩沉积物-水界面磷、铁的高分辨率分布特征及生物地球化学行为

为了解潮间带微环境中磷、铁元素的分布和耦合规律及对磷释放的影响,借助薄膜扩散梯度技术（ZrO-Chelex DGT）原位高分辨率获取九龙江口红树林潮滩孔隙水剖面的溶解活性磷（DRP）、Fe2+浓度,并测定沉积物相应的理化参数.研究结果表明:（1）在表层孔隙水中,DRP、Fe2+浓度呈现显著的正相关性,证实了磷、铁元素的耦合关系以及沉积物铁氧化物对磷吸附/解吸附的控制作用;（2）在深部还原带,DRP浓度相对Fe2+浓度具有较大的波动,主要受到沉积物异质性以及红树植物吸收等的影响;（3）根据表层孔隙水中DRP的浓度梯度计算获得磷的分子扩散通量为0.000 64～0.006 00μg·cm-2·d-1,结果远低于一般湖泊沉积物内源磷的扩散通量,原因是富铁且具较深氧化带的潮滩沉积物中的磷-铁耦合关系有效地抑制了磷的释放.国家自然科学基金项目(Nos.41372242,41672226

厦门同安湾红树林及临近光滩沉积物孔隙水中溶解活性磷和亚铁分布特征的对比分析

为了解红树林与光滩磷、铁地球化学行为的差异,借助薄膜扩散梯度技术（ZrO-Chelex DGT）,对厦门同安湾红树林及临近光滩孔隙水中溶解活性磷（DRP）、Fe2+浓度进行了原位测量,并采集了相应沉积物柱状样进行测定分析。结果表明:（1）Fe2+与DRP呈现较好的线性正相关,说明磷的吸附/解吸与铁氧化还原循环有关;（2）在不同深度,光滩孔隙水中DRP浓度均高于对应深度红树林。在浅层,由于溪水的补给造成光滩的磷富集;在深层,红树植物根部吸收导致磷浓度下降,光滩有机质含量较多,矿化释放DRP使其浓度较高;（3）孔隙水中的Fe2+浓度分布表明,红树林区域随着深度的增加,逐渐由好氧环境进入厌氧环境;而光滩沉积物氧化还原环境可能受到红树林的影响,孔隙水Fe2+在垂向上波动分布。国家自然科学基金项目(41672226; 41372242)~

厦门同安湾红树林及临近光滩沉积物孔隙水中溶解无机磷和亚铁分布特征的对比分析

为了解红树林与光滩磷、铁地球化学行为的差异,借助薄膜扩散梯度技术（ZrO-Chelex DGT）,对厦门同安湾红树林及临近光滩孔隙水中溶解活性磷（DRP）、Fe2+浓度进行了原位测量,并采集了相应沉积物柱状样进行测定分析。结果表明:（1）Fe2+与DRP呈现较好的线性正相关,说明磷的吸附/解吸与铁氧化还原循环有关;（2）在不同深度,光滩孔隙水中DRP浓度均高于对应深度红树林。在浅层,由于溪水的补给造成光滩的磷富集;在深层,红树植物根部吸收导致磷浓度下降,光滩有机质含量较多,矿化释放DRP使其浓度较高;（3）孔隙水中的Fe2+浓度分布表明,红树林区域随着深度的增加,逐渐由好氧环境进入厌氧环境;而光滩沉积物氧化还原环境可能受到红树林的影响,孔隙水Fe2+在垂向上波动分布。国家自然科学基金项目(No:41672226; 41372242

Response of Photosynthetic Apparatus to Different Irradiance in Flag Leaves of High-Yielding Winter Wheat PH01-35 Grown under Low Light Conditions

为了解弱光下生长的小麦叶片在不同光强下PS II和光合电子传递链的工作状态,解释其突然转入强光下时发生光抑制和光破坏的原因,以PH01-35为材料,采用大田人工遮光的方法,测定了小麦旗叶叶绿素含量、光合特性参数及快速光曲线。弱光处理15 d后,旗叶叶绿素含量明显上升,净光合速率、光补偿点、光饱和点、表观量子效率、羧化效率均出现不同程度的下降。与250μMOl M-2 S-1的弱光适应3 H相比,1 200μMOl M-2 S-1的强光适应3 H后,弱光下生长叶片的快速光曲线初始斜率下降幅度较大,曲线下降部分的斜率、最大相对电子传递速率、半饱和光强的上升幅度均小于自然光下生长的叶片,光能利用能力较低,其非光化学猝灭系数nPQ也明显低于自然光下生长的叶片,为自然光下生长叶片的87.5%。弱光下生长的小麦叶片光能吸收能力增强,但较低的光能利用能力和过剩光能耗散能力是其转入自然强光后易发生光抑制甚至光破坏的主要原因。To further explain the mechanism of photoinhibition and light damage in wheat(Triticum aestivum L.) leaves when it was suddenly transferred from low light to high light conditions,the responses of photosynthetic apparatus in shaded leaves of the high-yielding winter wheat line,PH01-35,were examined using chlorophyll fluorescence and gas exchange techniques.After 15-day shading,the chlorophyll content increased greatly,but the net photosynthetic rate(Pn),light compensation point(LCP),light saturation point(LSP),apparent quantum yield(AQY),and carboxylation efficiency(CE) all decreased.Compared with leaves grown in full sunlight,the initial slope(α),decline slope(β),maximum relative electron transport rate(rETRmax),and minimum saturating irradiance(Ek) of rapid light curves in leaves grown in low light were lower when the plant was transferred from low light intensity of 250 μmol m-2 s-1 to high light intensity of 1 200 μmol m-2 s-1.Non photochemical quenching(NPQ) in leaves grown in low light was significantly lower than that in leaves grown in full sunlight,indicating that the ability of light use and thermal energy dissipation was limited in leaves grown in low light.The wheat leaves grown in low light were more suscepti-ble to photoinhibition due to low CO2 assimilation and photoprotective ability,such as xanthophylls cycle-dependent dissipation of excessive energy,despite the better energy absorbability in low light conditions.山东省农业良种工程重大课题(鲁农良种字[2006]6号)资

中国超大城市空气污染和人体健康 (APHH-Beijing) 中英联合研究计划 最终报告

Chinese versio

Marginal Diminishing on Poverty-Reduction Effects of Government Spending in Rural China

中国农村的改革开放取得了巨大的成功,同时也使农村的贫困问题凸现出来;财政投资是解决农村贫困问题的有效途径,然而财政投资的效率边界也使新世纪的扶贫工作面临新的课题。本文分析了农村财政投资对减贫的作用机理,并在此基础上给出了当前农村减贫中财政投资在不同地区、项目上的合理区间和运作方式。Accompanying the success of the reform in rural area, the poverty problem is increasingly turning up. Government spending is efficient for poverty reduction in rural area. However, its efficiency limitations make it a new challenge for China to continuously reduce poverty. This article analyses the mechanism of government spending in rural area on poverty reduction effect and proposes ways that the G.A.S should be used and distributed

An Agent Oriented Programming Shell System

文章提出了一个面向Agent的程序设计框架系统,包括:Agent的表达和相关函数,Agent外部格式到计算机内部的转换;Agent的解释机制;Agent之间的通讯和一个该框架系统的实际应用

Design of a Triaxial High-g Piezoresistive Microaccelerometer

提出了一种三轴高g的压阻式微加速度计的设计方法.通过理论推导和计算,分析了模型的应力和频率,得到了具有较高频率的高g微加速度计的结构参数.通过有限元软件AnSyS分析确定了在获得高输出电压条件下的电阻布置方案.在此基础上,对三轴进行了200 000 g载荷下的性能研究,结果表明所设计的微加速度计具有较高的灵敏度和线性度.This paper presents a method of designing a tri-axial high-gpiezo-resistive micro-accelerometer.First,the equivalent mechanics model of the micro-accelerometer is set up,and then the theoretical analysis of stress and frequency are conducted to obtain the structure parameters.Furthermore,FEM in ANSYS is used to determine the positions of piezo-resistors to gain a better output voltage signal.In the end,the performance of the micro-accelerometer is studied under 200 000 gloads in three axis,and results show that the presented micro-accelerometer is associated with high sensitivity and high linearity in the high-genvironment.航空基金(2008ZH68002); 教育部新世纪优秀人才支持计划(2007NCET-07-0723