Melanoma genome sequencing reveals frequent PREX2 mutations

Melanoma is notable for its metastatic propensity, lethality in the advanced setting and association with ultraviolet exposure early in life. To obtain a comprehensive genomic view of melanoma in humans, we sequenced the genomes of 25 metastatic melanomas and matched germline DNA. A wide range of point mutation rates was observed: lowest in melanomas whose primaries arose on non-ultraviolet-exposed hairless skin of the extremities (3 and 14 per megabase (Mb) of genome), intermediate in those originating from hair-bearing skin of the trunk (5-55 per Mb), and highest in a patient with a documented history of chronic sun exposure (111 per Mb). Analysis of whole-genome sequence data identified PREX2 (phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2)--a PTEN-interacting protein and negative regulator of PTEN in breast cancer--as a significantly mutated gene with a mutation frequency of approximately 14% in an independent extension cohort of 107 human melanomas. PREX2 mutations are biologically relevant, as ectopic expression of mutant PREX2 accelerated tumour formation of immortalized human melanocytes in vivo. Thus, whole-genome sequencing of human melanoma tumours revealed genomic evidence of ultraviolet pathogenesis and discovered a new recurrently mutated gene in melanoma.     

α-synuclein蛋白与A-β肽和β-synuclein蛋白相互作用位点的预测

α-synuclein蛋白的异常聚集是引起帕金森病的重要因素.实验研究发现,α-synuclein蛋白能与多个蛋白相互作用.在相互作用的蛋白质中,有的可以促进α-synuclein的异常聚集,如A-β肽;有的可以抑制α-synuclein的异常聚集,如β-synuclein蛋白,但促进或抑制α-synuclein异常聚集的机理并不明确.利用SYBYL和AUTODOK软件模拟α-synuclein蛋白与A-β肽和β-synuclein的相互作用,找到其相互作用位点,为进一步研究α-synuclein蛋白的异常聚集提供理论依据.     

一种加权傅里叶变换域通信方法

为提高通信的安全性,将多项加权分数傅里叶变换(multi-terms weighted-type fractional Fourier transform, MWFRFT)与变换域通信系统(transform domain communication system, TDCS)相结合,提出一种加权傅里叶变换域通信方法。首先使用MWFRFT对原信号进行处理;然后利用混沌序列产生的伪随机相位生成TDCS基函数;最后将所得信号与基函数调制并用于隐蔽通信。为验证该方法的可行性,对信号的星座变换特性以及相关特性进行了仿真分析,结果表明,MWFRFT具有较好的星座混淆性,利用混沌映射得到的TDCS基函数相关性有所提高,因此,该方法适用于隐蔽通信。     

高寒山区紫花苜蓿人工草地退化过程

以祁连山东段旱泉沟小流域为例,通过连续6年的定位观测,研究了紫花苜蓿人工草地退化特征.结果表明:紫花苜蓿人工草地建植以来,草地群落的盖度逐年下降,而群落密度增加,草层高度呈波动变化,地上生物量呈单峰曲线变化,最大值出现在建植后第3年;草地的物种数由7种增加到16种,物种替代速率为2.5～5.5,群落的Shannon-Wiener多样性指数呈上升趋势,Pielou均匀度指数表现出增减交替趋势,而Simpson优势度指数呈下降趋势.建植第5年,紫花苜蓿出现了自然稀疏,干草产量下降至129.8 g/m~2,草地裸斑增加、质量下降,部分草地已失去利用价值.2003-2008年人工草地群落经历了紫花苜蓿、多年生杂类草、多年生禾草优势阶段,草地退化严重,割草能力丧失,群落结构和功能趋于撂荒地演替格局.     

电路原理实验箱的创新性改进设计

KHDL-1型教学电路原理实验箱,实验板密集度高,但由于其元器件固定在面板上而无法进行准确的误差分析,故将介绍一种自主创新的电路原理实验箱:将实验箱面板上的各个实验电路与箱体分离,做成插槽式实验电路板。此方案利用电路仿真软件Proteus7Professional对直流电压源、电流表进行仿真设计,同时又可测得分离元件的实验参数,可进一步对数据误差进行分析处理。这样使实验简单明,同时实验者能自主设计焊接电路,增强了同学们的动手能力和创新意识。     

基于NS的Ad hoc网络路由协议性能仿真

Ad hoc无线网络是一组无线移动主机组成的一个没有任何基础设施或集中管理设备的临时网络。文中介绍了Ad hoc无线网络的路由协议,并利用网络仿真软件NS,对两种典型的路由协议AODV(Ad hoc on Demand Distance Vector Routing,Ad hoc网络的距离矢量路由算法)和DSR(Dynamic Source Routing,动态源路由协议)进行了仿真实验,并给出了结果。     

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched for de novo mutations of major effect. We identified 21 de novo mutations, 11 of which were protein altering. Protein-altering mutations were significantly enriched for changes at highly conserved residues. We identified potentially causative de novo events in 4 out of 20 probands, particularly among more severely affected individuals, in FOXP1, GRIN2B, SCN1A and LAMC3. In the FOXP1 mutation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk. Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs.     

第三方物流多车型硬时间窗路线问题研究

针对租赁条件下的第三方物流多车型硬时间窗车辆路线问题的特点,建立了以车辆租赁费用和运行费用为目标的模型,并提出了结合模拟退火法的混合遗传算法.该算法以优先满足最小费用车型的策略来分配多车型车辆,同时采用客户直接排列的方法以实现车辆数的变化.最后,算例的应用和多车型容量的灵敏度分析表明:该混合遗传算法的搜索能力和求解稳定性均优于简单遗传算法和基于or-opt的模拟退火算法;按最小费用分配车辆策略可为第三方物流企业车辆的租赁决策提供依据.     

基于辅助粒子滤波的风估计方法研究

对飞行中风场测量值含连续野值较多的问题,提出了将连续野值当作噪声处理的方法。噪声设置为随机游走模型并在状态方程中引入时变系数,利用辅助粒子滤波(APF)处理。与当前的自适应Kalman方法进行了比较,在含10个连续野值的模拟数据处理中,Kalman方法发生了跳变,而APF方法成功地处理了连续野值;APF方法和Kalman方法的平均均方误差分别为0.8313和1.0021。最后,将APF方法用于飞行测量数据处理。结果表明,APF方法能处理更多的连续野值,具有更好的精度和稳定性,适合工程应用。     

脑蛋白水解液对七氟醚麻醉导致的大鼠学习记忆障碍的影响

目的 探讨脑蛋白水解液(CHI)对七氟醚麻醉导致的大鼠学习记忆障碍的影响,并分析其可能作用机制.方法 将32只大鼠随机分为七氟醚组、CHI高剂量组、CHI低剂量组和对照组,每组8只.七氟醚组吸入2％ 七氟醚,每天2 h,连续7 d,CHI高剂量组每天吸入七氟醚之前,尾静脉注射脑蛋白水解液1200μL,CHI低剂量组每天...