Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

Epimutations in the germline, such as methylation of the MLH1 gene, may contribute to hereditary cancer syndrome in human, but their transmission to offspring has never been documented. Here we report a family with inheritance, in three successive generations, of germline allele-specific and mosaic hypermethylation of the MSH2 gene, without evidence of DNA mismatch repair gene mutation. Three siblings carrying the germline methylation developed early-onset colorectal or endometrial cancers, all with microsatellite instability and MSH2 protein loss. Clonal bisulfite sequencing and pyrosequencing showed different methylation levels in different somatic tissues, with the highest level recorded in rectal mucosa and colon cancer tissue, and the lowest in blood leukocytes. This mosaic state of germline methylation with different tissue distribution could act as the first hit and provide a mechanism for genetic disease inheritance that may deviate from the mendelian pattern and be overlooked in conventional leukocyte-based genetic diagnosis strategy.     

CEV过程下回顾期权的定价问题研究

讨论了当基础资产遵循不变方差弹性（CEV）过程时回期权的定价问题,通过构建一个三项式模型对CEV过程进行近似化处理并利用其为回顾期权进行定价,发现当资产价格服从CEV过程时,Babbs提出的方法可修改用来为回顾期权定值。     

一种时变滑模平面的设计方法

在分析滑模平面设计的基础上,指出了按传统的方法设计的滑模平面的缺陷。为了克服此缺陷,根据矩阵分析理论提出了一种新的具有全局鲁棒性的时变滑模平面的设计方法,并给出了三种具体的滑模平面形式。通过理论分析和计算机仿真可以看出,基于该方法设计出滑模平面的变结构控制系统,能保证系统从任意的初始状态开始就处于设定的滑模平面上,对参数摄动和外部干扰具有很强的鲁棒性。用该方法设计出的时变滑模平面是传统的滑模平面的     

Maize HapMap2 identifies extant variation from a genome in flux

Whereas breeders have exploited diversity in maize for yield improvements, there has been limited progress in using beneficial alleles in undomesticated varieties. Characterizing standing variation in this complex genome has been challenging, with only a small fraction of it described to date. Using a population genetics scoring model, we identified 55 million SNPs in 103 lines across pre-domestication and domesticated Zea mays varieties, including a representative from the sister genus Tripsacum. We find that structural variations are pervasive in the Z. mays genome and are enriched at loci associated with important traits. By investigating the drivers of genome size variation, we find that the larger Tripsacum genome can be explained by transposable element abundance rather than an allopolyploid origin. In contrast, intraspecies genome size variation seems to be controlled by chromosomal knob content. There is tremendous overlap in key gene content in maize and Tripsacum, suggesting that adaptations from Tripsacum (for example, perennialism and frost and drought tolerance) can likely be integrated into maize.     

带干扰Poisson风险模型的破产时间分析

现实生活中,保险公司发生破产行为的可能性是非常小的。对保险公司而言,他们更为关心的是公司需要多长时间会破产。运用鞅论的方法,分析了一类带干扰的Poisson风险模型资金盈余首次达到0的时间,并得到了它的矩母函数和期望。     

Overexpression and export of Vibrio anguillarum metalloprotease in Escherichia coli

Vibrio anguillarum metalloprotease, an extracellular zinc metalloprotease involved in the virulence mechanism of Vibrio anguillarum, is synthesized from the empA gene as a 611-residue precursor and naturally secreted via Sec secretion pathway in Vibrio anguillarum. In this study, heterologous expression of the empA gene encoding metalloprotease and export of the recombinant metalloprotease in Escherichia coli were examined. The empA gene was subcloned into pBAD24 with arabinose promoter and sequenced. The sequence encoded a polypeptide (611 amino acids) consisting of four domains: a signal peptide, an N-terminal propeptide, a mature region and a C-terminal propeptide. The empA gene inserted in plasmid pBAD24 was overexpressed in TOP10 strain of E. coli after arabinose induction. The 36kDa polypeptide of the recombinant metalloprotease as the mature protease was further confirmed by SDS-PAGE and immunoblotting. It was found that recombinant metalloprotease with the EmpA activity and antigenicity was exported into the periplasm of Escherichia coli cells via Sec translocation pathway, whereas it was secreted into extracellular environments in V. anguillarum. The results imply that the expression, export and processing mechanism of the protein in E. coli are similar to those in V. anguillarum.     

通信原理实验系统的设计与实现

当前的通信原理实验多为纸质版实验报告,需要学员将实验结果、信号波形进行徒手绘制,效率不高;且纸质实验报告还不便于档案的保存和管理。从提高实验课堂效率和档案记录的数字化存贮、管理角度出发,开发了通信原理实验系统。教学实践表明,该系统能满足实验报告计算机存贮、管理的功能,但有待进一步完善。     

影响机械加工精度的主要因素

文章介绍了影响机械加工精度的几个重要因素。在诸多误差因素中,机床的几何误差、工艺系统的受力变形和受热变形占有突出的位置,通过了解这些误差因素是如何影响加工误差的,可以使工件的加工达到质量要求。     

基于VB与MO的120急救系统的设计与开发

120急救在现代城市中扮演着越来越重要的角色,快速、准确、高效的指挥决策和调度是城市急救系统实现的关键.系统从功能和技术两方面入手,在分析整合平顶山市现有120急救系统的基础上引入GIS、GPS和GSM技术,利用组件mapobjects,结合visual basic开发语言,实现对数据的空间分析和管理,建立了基于GIS的城市120急救系统,实现了信息的查询分析、最佳路径分析以及缓冲区分析功能.