Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency—misdiagnosis by direct sequence analysis using a PCR product

Molecular diagnostic tests are becoming a routine analysis in many laboratories. These modern analyses are widely used in clinical medicine, forensic, genetic and prenatal diagnosis and also in preimplantation genetic diagnosis. The accuracy of analysis is highly dependent on the success achieved in minimising genotyping errors. The pitfalls in molecular diagnostic tests can be due to a simple technique such as the polymerase chain reaction (PCR) used universally. This technique is routinely used for its apparent accuracy, but it is also a well-known source of errors. We report an error introduced during PCR reaction that leads to a wrong sequence result and consequently to a ‘false’ molecular result in a next prenatal diagnosis in a family with severe factor VII (FVII) deficiency. This error was verified using an unsuitable primer design in a rich repetitive sequence of the FVII gene that leads to a false annealing and then to a wrong molecular diagnosis. It is essential to link closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive results, which is of great importance to diagnosis and molecular prevention. Copyright © 2003 John Wiley & Sons, Ltd.     

约束条件下中国循环经济发展中的生态效率——基于优化的超效率SBM-Malmquist-Tobit模型

以中国30个省份、直辖市、自治区的年度面板数据为研究对象,重点将生态资源存量和环境污染造成的经济浪费两项指标纳入新的生态效率评价体系,运用优化的引入非期望产出的超效率SBM模型测算生态效率,再运用Malmquist指数考察全要素生产率（TFP）与生态效率的动态变动关系,最后运用Tobit回归分析探索生态效率主要影响因素的方向、强度和变化趋势,以此度量和展现循环经济发展的整体情况.结果显示：生态效率呈现由东到西、由沿海到内陆逐渐收敛的格局,东部沿海地区和中部、西部内陆地区间,循环经济发展水平存在显著的阶梯式区域失衡;生态效率的集群效应明显,辐射效应不足,不同地区或同一地区的不同省份间,循环经济发展水平同样参差不齐;经济发展引发的生态赤字问题逐步缓解,但在短时间内经济和生态的矛盾依旧存在,西北地区尤为突显;第三产业比重、技术进步、市场开放对生态效率的提升具有积极作用且趋于强化;政府规制、人口密度对生态效率的提升也具有积极作用但趋于减弱;第二产业比重、能源结构对生态效率的改善存在负面影响亦趋于强化.     

反舰导弹射击精度评估研究

分析了反舰导弹射击精度评估领域命中概率与圆概率偏差、命中区域圆概率偏差的分歧,提出了制导概率椭圆偏差和制导概率圆偏差的新概念。将反舰导弹飞行末段雷达导引头波束覆盖区域与打击目标水面舰艇轮廓大小进行了比对,根据比对结果划分为雷达导引头波束完全覆盖、部分覆盖和内嵌于目标三个等级,对应提出了命中概率评估方法、制导概率椭圆偏差评估方法和制导概率圆偏差评估方法。通过反舰导弹对快艇、驱护舰和航母三类目标射击精度评估算例验证了反舰导弹射击精度评估总体方案的全面性和三类方法的适用性。     

A Variance Estimator for Constrained Estimates of Change in Relative Categorical Frequencies

Consistent estimators of change and state becomes an issue when sample data come from a mix of permanent and temporary observation units. A joint maximum likelihood estimator of state and change creates estimates of state that depend on antecedent viz. posterior survey results and may differ from estimates of state derived from a single-date analysis of the sample data. A constrained estimator of change in relative categorical frequencies that eliminates this potential inconsistency is proposed and a model based estimator of their sampling variance is developed. The performance of the constrained estimator is quantified against six criteria and a joint maximum likelihood estimator in simulated sampling from 15 populations with three combinations of permanent and temporary samples, four to six categorical class attributes, and constant size between sampling dates. Bias of the constrained estimators was negligible but larger than for joint maximum likelihood estimators. Mean absolute deviations and variances of constrained estimators were generally at par with the joint estimators. Constrained estimators of root mean square errors and achieved coverage of nominal confidence intervals of constrained estimators were occasionally better. A generalized variance function for the constrained estimates of change is provided as a computational shortcut.     

浅谈烟道气现场监测的工作管理

烟道气现场监测，易出差错。监测人员必须有良好的专业理论水平、丰富的工作经验、高度的敬业精神。本文就现场监测工作易出现问题进行了分析，列举了解决问题的方法     

对大气采样误差的理论研究

环境监测数据是环境保护工作的基础,监测仪器设备的精良及监测方法的科学性则是获得优质数据的保障工具.本文运用数学方法对目前广泛使用的采样仪器进行了采样误差的分析研究,指出了改善仪器和改善监测方法去获取更精确数据的途径.     

环境科学研究中两变量非线性相关时的线性回归方程

以环境科学研究两变量非线性相关的问题为对象，讨论建立线性回归方程的方法。有绝对误差均方和最小的最小二乘法、相对误差最小的新回归法。以简易的方法，建立相关性好、误差小的回归方程。介绍了两变量各种非线性相关时的线性回归方程在环境科学研究中的应用。     

内蒙古发展循环经济的方向与政策初探

本文从内蒙古资源、经济与环境问题现状出发，分析了发展循环经济的必要性、紧迫性和可行性，提出了我区建立循环经济的发展战略应考虑的基本原则，发展方向和法律、政策方面的建议。     

内蒙古农业循环经济发展模式初探

循环经济是目前各国走可持续发展道路的有效途径,循环型农业就是把循环经济理念应用于农业生产.本文分析了内蒙古自治区发展农业循环经济的必要性,尝试运用循环经济理念探求内蒙古自治区新的农业发展方式,以实现内蒙古自治区农业可持续发展.通过分析,初步提出了内蒙古开展农业循环经济的发展模式.     

循环经济在煤矿生产中的实施和发展前景

循环经济是2l世纪可持续发展的战略选择,煤矿生产发展和实施循环经济模式是煤炭行业经济结构改革的重要内容。通过对煤矿生产过程中发展循环经济的论述。探讨了煤矿生产建立“煤电建材联营”为产业链的循环经济发展模式,提出了煤矿生产实施循环经济的措施。