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.     

NOx存在条件下相对湿度对甲苯氧化产物的影响

利用流动管反应器模拟甲苯与氧化剂×OH在NO_x存在条件下的反应,定量测定了不同相对湿度条件下（17.5%、35%、50%、70%）反应生成的部分气相产物和颗粒相产物,计算了不同相中产物产率,测量了不同相对湿度下的颗粒相有机碳（OC）产率,推导了相对湿度对甲苯氧化反应的影响机制.结果表明,相对湿度不仅对甲苯与×OH反应途径比例有影响,还对产物的产率及氧化程度有影响.     

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.     

曲面零件在拉深过程中内皱时刻及影响因素

进一步推导了曲面零件悬空区上的应力分布及临界失稳公式。然后通过计算机编程 ,求解了临界失稳方程 ,得到了拉深系数、相对锥顶半径、相对圆角半径、材料相对厚度与临界失稳时刻间的关系曲线 ,并对曲线变化的规律进行了分析。     

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。     

相对灰色关联度在城市污水处理工艺优选中的应用

通过对城市污水处理工艺评价指标的定量化处理，并根据奖优罚劣的原则对初始指标集进行[-1，1]区间线性规范化处理，确定理想最优方案（A^＊）和理想最劣方案（A-），以此计算出各待选方案与它们的相关系数（ζ）。采用变异系数法计算各指标权重（ω），并计算各候选方案相对最优方案的灰色关联度，进而确定最佳方案。     

两点校正法的正确选择

在应用两点校正中，计算相对偏差在选择浓度点上有不同选法：相对偏差计算公式也有不同选法，导致计算结果没有可比性。本文用校准曲线及相对偏差概念，论述了应用两点校正法校正校准曲线如何正确选择浓度点及计算公式。