De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance.     

β-羟基亚胺类化合物的合成及其锂化合物催化异氰酸酯三聚反应

以苯乙酮和芳香胺化合物通过缩合反应合成相应的亚胺化合物,再用二异丙胺基锂去质子后与二苯甲酮反应,然后水解,合成了三个β-羟基亚胺类化合物.进一步研究了β-羟基亚胺锂化合物对芳香异氰酸酯三聚合成异氰脲酸酯的催化效果.实验结果表明,在室温条件下,当催化剂用量为0.1％,反应时间为2h时,催化剂1有较好的催化效果,芳香异氰酸酯苯环上有吸电子的取代基时,催化效果最好,产率可达到96％以上.     

二元混合型偏微分方程的Frankl问题和Tricomi问题

研究一个二元混合型偏微分方程的Frankl问题解的存在惟一性,并讨论此方程的Frankl问题的解如何趋向于其对应的Tricomi问题的解.此混合型方程的系数在双曲型区域与椭圆型区域的连接线上是间断的.主要结果是:此方程的Frankl问题在H1中存在惟一的解;当Frankl问题的边界条件给法趋向于Tricomi问题的边界条件给法时,该方程的Frankl问题的解也在H1中趋近于其对应的Tricomi问题的解.     

基于视觉目标跟踪的侦察机器人导航方法

针对未知环境下侦察机器人的自主导航问题,提出了一种基于视觉目标跟踪的侦察机器人导航方法.首先利用二进制鲁棒独立元素特征(BRIEF)提取方法来检测和描述待跟踪视觉目标的局部不变特征点,在快速的特征匹配计算基础上提出由粗到精的目标定位两步法实现机器人导航过程中视觉目标的实时准确跟踪.其次对基于视觉目标跟踪的自主导航任务进行行为分解和实现,在行为中集成视觉目标跟踪算法.最后利用基于宏行为的机器人事务执行机制实现移向视觉目标的自主导航控制.实验结果表明,提出的方法能够使侦察机器人实时准确地跟踪视觉引导目标,在复杂障碍物环境下可靠地完成移向目标的自主导航任务.     

氯芬黄敏片糖衣片和薄膜衣片溶出曲线的建立和比较

建立氯芬黄敏片的溶出度测定法,采用f2因子法评价本品糖衣片与薄膜衣片溶出曲线的相似性.分析结果表明:二者溶出曲线不相似,后者具有较好的溶出速率,建议提高氯芬黄敏片的质量标准和制剂水平.该法具有较好线性关系(R=0.9999),精密度RSD为0.41%(n=6),回收率为98.4%,可作为本品的溶出度测定方法.     

用于超快激光器碳纳米饱和吸收体的研究进展

碳纳米管及石墨烯饱和吸收体与目前广泛使用的锁模器相比,具有强饱和吸收、超快恢复时间、宽带宽、高光损伤阈值、易制作以及与光纤和纳米器件兼容等优点.对用于超短脉冲激光器的碳纳米管及石墨烯饱和吸收体的制作方法进行综述,针对目前存在的问题,指出了其发展方向.     

无需重新初始化水平集的多相水平集图像分割方法

笔者提出了一种无需重新初始化水平集函数的多相变分水平集图像分割方法.根据Vese -Chan提出的多相模型的区域竞争思想,结合图像区域全局信息的能量函数作为模型的外部能量项,引入内部变形能量约束水平集函数来逼近符号距离函数,避免了重新初始化水平集函数的过程,提高了计算速度和分割效果.实验结果表明,笔者提出的模型有效地克服了传统模型需重新初始化和构造符号距离函数计算量大的缺点,而且具有全局最优分割能力和较强的抗噪性能.     

试论空三加密在地形图绘制中的应用

笔者就章丘市1：2000地形图绘制项目,按区域网法影响空三加密精度的因素主要为：影像质量、像控点选取及精度、加密点的选取及加密解算方法、加密人员的经验等,找出了影响空三加密精度的主要因素及解决办法．结合生产实践解决了1：2000地形图绘制空三加密精度问题,很好的完成地形图绘制工作,希望借此可以找到此类问题的解决办法．     

Deleted in colorectal carcinoma suppresses metastasis in p53-deficient mammary tumours

Since its discovery in the early 1990s the deleted in colorectal cancer (DCC) gene, located on chromosome 18q21, has been proposed as a tumour suppressor gene as its loss is implicated in the majority of advanced colorectal and many other cancers. DCC belongs to the family of netrin 1 receptors, which function as dependence receptors as they control survival or apoptosis depending on ligand binding. However, the role of DCC as a tumour suppressor remains controversial because of the rarity of DCC-specific mutations and the presence of other tumour suppressor genes in the same chromosomal region. Here we show that in a mouse model of mammary carcinoma based on somatic inactivation of p53, additional loss of DCC promotes metastasis formation without affecting the primary tumour phenotype. Furthermore, we demonstrate that in cell cultures derived from p53-deficient mouse mammary tumours DCC expression controls netrin-1-dependent cell survival, providing a mechanistic basis for the enhanced metastatic capacity of tumour cells lacking DCC. Consistent with this idea, in vivo tumour-cell survival is enhanced by DCC loss. Together, our data support the function of DCC as a context-dependent tumour suppressor that limits survival of disseminated tumour cells.     

宁夏贺兰山东麓扬黄新灌区土壤质量的演变

为系统认识宁夏贺兰山东麓扬黄新灌区土地在利用变化背景下,土壤质量演变的一般规律,用空间换时间的田间取样方法,分别从利用方式、土壤分层、利用年限的角度构建数据体系.结果表明,相对未利用对照地,耕地土壤中有机碳和盐分发生表聚现象,园地20～60cm土层中有机碳和盐分明显富集;随利用年限的延长,早期耕地和园地表层中有机碳和盐分含量都呈现先降后升的格局,但后期变化趋势出现分异.园地和耕地表层土壤中wC/N,wC/P随利用年限的延长表现出近似的变化趋势,但后期土壤中wC/N开始趋近于未利用对照地,土壤中C-N循环并未发生实质性改变.耕地、园地各自具有其独特的土地退化防治价值,但是园地具有更突出的生态适宜性,耕地长期利用下的次生退化问题依然需要关注.