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.     

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.     

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。     

TVS／TFS去除率在ATAD污泥稳定评价的应用

在ATAD(Autothermal Thermophilic Aerobic Digestion,自升温高温好氧消化)工艺污泥稳定评价中引入TFS．提出“TVS/ TFS去除率”的概念,得出“TVS/TFS去除率”可以代替“VS(g)去除率”而成为一种新的污泥稳定指标的结论;采用数学微分的方法分析了“TVS/TFS去除率”和“VS(g)去除率”的数据误差问题,进泥TS为60g/L,TVS/TS为56％的运行条件下,前者的最大数据误差仅为3．16％,远小于后者的误差最大值15．45％,即引入TFS解决了“VS(g)去除率”数据波动大的问题;TFS的引入还节约了污泥稳定研究所需的时间和工作量。     

事故前人因失误研究

在安全评价中，人因失误特别是事故后人因失误越来越受到重视；但相对而言，事故前人因失误没有引起足够的重视。本通过对大量核电厂安全分析报告和运行事件报告的考察，系统地阐述了事故前人因失误对系统安全的显影响，并在此基础上，归纳出在核电站开展事故前人因(失误)分析的程序。该程序主要包括系统熟悉，定性分析，筛选，定量计算，与故障树的集成，敏感性分析与不确定性分析，形成分析档等几个步骤。     

提高化学需氧量质控合格率的研究

大庆油田化工总厂废水中化学需氧量（COD）的测定采用库仑法。为了提高质控合格率，从人员素质、仪器设备、电级内液等9个方面分析寻找导致误差的主要影响因素并制定对策。同时对影响电极内液及消解的因素进行正交实验确定最佳条件。结果使库仑法质控合格率由90％提高到95％，测定38次标样全部合格。     

复杂人——机系统中的人因失误

随着人——机系统变得越来越多，装置的可靠性越来越高，人因失误已成为重要的潜在事故源。本文描述了复杂人——机系统的特征，探讨了该系统中人因失误的定义、分类、数据采集和事故模型。这些研究有助于对人因失误的预测、预防和减少。     

生活事件分析法在煤矿企业中的应用

我国煤矿一再的发生事故,绝大部分原因是人为失误.根据人为失误的发生机理,本文提出了生活事件分析方法,并研制了其配套应用程序,对某煤矿企业的人因事故危险性进行了实际评价.该方法可方便地应用于煤矿企业人为事故的预防工作中.     

复杂工业系统中班组人因失误分析

在复杂工业系统中 ,人因可靠性分析 (HRA)是预防和减少人因失误的有效方法。人在复杂工业系统中的生产活动 ,往往是由组织中班组成员集体完成的 ,完整的HRA必须充分考虑班组人误的产生。班组人误的产生有其自身的规律 ,如何合理地定义人员行为形成因子 (PSFs)是班组人因失误分析的难点 ,也是班组人因失误分析的重要手段 ,被广泛应用在核电厂 ,航空和造船工业领域的事故分析中。笔者详细分析和探讨了班组人因失误的定义、产生过程及相关的人的行为形成因子 ,以期能使大规模工业系统中的人因失误分析更加合理和完善。