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。     

SiO_2-TiO_2纳米管的制备及其光催化性能的研究

文章采用水热法制备SiO2-TiO2纳米管,通过扫描电镜(SEM)和透射电镜(TEM)考察了该纳米管的结构形态,并用X-射线衍射考察其晶体结构。实验结果表明所制得的纳米管是锐钛晶型,其两端开口,具有多层管壁;管径为8nm左右,管壁厚1～2nm。光催化降解酸性橙Ⅱ实验表明:SiO2-TiO2纳米管光催化速率比TiO2纳米管高出10%。这可能是因为Si元素的存在增大了钛纳米管的比表面积,同时SiO2的存在能降低光生电子和空穴的复合率。     

论违反《中华人民共和国固体废物污染环境防治法》的刑事责任

系统分析《中华人民共和国固体废物污染环境防治法》所规定的三种犯罪类型,论述追究固体废物污染环境罪刑事责任的犯罪构成要件。     

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。     

Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation

Ultrasound examination at 12 weeks' gestation revealed severe generalised subcutaneous oedema in a pregnancy at risk for achondrogenesis type II. Transvaginal scanning confirmed the oedema and suggested abnormal limb development. The prenatal diagnosis was confirmed by X-ray examination after transvaginal termination.     

钙钛矿型烯土复合氧化物及其在汽车尾气净化工程中的应用

本文介绍了钙铁矿型烯土复合氧化物的结构特征、制备方法与催化性能；分析了该类氧化物对汽车尾气环境的适应性，并与现有的贵金属催化剂作了比较．     

化学发光流动注射法测定雨水中过氧化氢

用化学发光流动注射分析装置,将16孔阀连接成异步双流路,以过氧化氢-鲁米诺-钴(Ⅱ)为化学发光体系,建立了快速测定雨水中过氧化氢的方法,最低检测限为0.1ng/ml,在0.1—400ppb范围内有良好的线性关系,相对标准差为0.78—3.03％,每小时可分析480个以上的样品.