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.     

中国沿海省市海洋生态补偿效率评价

本文运用考虑非期望产出的超效率SBM模型、DEA-Malmquist指数模型、Tobit模型和标准差椭圆模型,对2006-2016年中国11个沿海省市的海洋生态补偿效率开展测度和分析,结果显示：2006~2016年中国总体海洋生态补偿效率平均值为0.633,处于中等效率水平,随时间呈“下降-上升-稳定”的趋势;海洋生态技术进步依旧是海洋生态补偿过程中全要素生产率的重要驱动力,但面临一定的技术效率损失;海洋第三产业比重对海洋生态补偿效率值有正向的显著影响,城市化率、进出口总额占比和海洋灾害直接经济损失对海洋生态补偿效率存在显著的负向影响;海洋生态补偿效率的空间聚集性增强,区域不平衡性有所收敛,空间分布格局基本保持稳定.     

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     

广东省地方污染物排放标准的特点

介绍了广东省地方污染物排放标准中的《水污染物排放限值》和《大气污染物排放限值》的主要特点 ,对今后标准修订提出了建议     

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。     

锑的淡水水质基准及其对我国水质标准的启示

针对我国锑水生生物水质基准缺乏的问题，收集筛选了锑对淡水水生生物的急性和慢性毒性数据，使用评价因子法、毒性百分数排序法和物种敏感度分布法分别推导我国锑的淡水水质基准，通过综合分析和比较，选择物种敏感度分布法推导的急性和慢性的水质基准值（466.62μg/L和88.71μg/L）作为最终的基准推荐值.通过与国内外现有锑相关水质标准进行比较，提出在我国相关水质标准修订中分别制定保护水生生物和人体健康水质标准的建议，避免水质标准对水生生物的"过保护"问题.     

松花江氯苯类有机污染物的水质标准制定

松花江具有冰封期较长,江水中有机毒物难降解、迁移距离长等环境特点.为了控制污染、保护生态环境、维护生态安全、结合松花江特点,研究并制定了松花江氯苯类有机污染物水质标准.本标准已列为地方标准(GB23/T901-2005).