Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)

Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inherited mutation in the gene encoding the plasma protein transthyretin (TTR). We here report the first protocol for single-cell detection of the Met30 mutation in FAP type I and its application to PGD. A nested PCR reaction for exon 2 of the TTR gene was developed. The PCR product was then analysed by restriction enzyme analysis and SSCP allowing the detection of the point mutation. Ten clinical cycles were performed in seven couples. From the 93 metaphase II (MII) injected oocytes, 82 were normally fertilized and 78 were biopsied. A positive signal in the nested PCR reaction was obtained in 61 blastomeres, corresponding to a DNA amplification efficiency of 78.2%. No allele dropout (ADO) or contamination were detected. A biochemical pregnancy was obtained in three cases and a clinical pregnancy in one couple is actually in normal evolution. Copyright © 2001 John Wiley & Sons, Ltd.     

乔治王岛菲尔德斯半岛火山岩岩石学特征及岩浆成因与演化

菲尔德斯半岛出露一套第三纪岛孤火山岩,包括高铝玄武岩、玄武安山岩、及少量安山岩与英安岩,从早到晚可划分为碧玉山段、玛瑙滩段、化石山段和岩块山段四个岩性段.它们属于同一钙碱性岩浆演化系列,其中高铝玄武岩是其它火山岩的母岩.高铝玄武岩的形成过程可分两个阶段:首先是上地幔楔经过20～25％的部分熔融生成原生橄榄拉斑玄武质岩浆,然后原生岩浆再经40％的矿物分离结晶作用(其中橄榄石占30％,单斜辉石占70％)而分异形成高铝玄武岩浆.     

高岭土矿成因分类的氢氧同位素证据

本文论述了氢、氧同位素作为高岭土矿成因类型地球化学指标的意义.根据氢、氧同位素数据,我国浙闽沿海地区高岭土矿床主要可分为热液蚀变型和风化作用型两大类.其成矿溶液以大气降水为主.     

饮用水源中三卤甲烷含量及与遗传毒性的相关性研究

通过对某市饮用水源中不同点位的三卤甲烷浓度测试,同时采用SOS/ Umu 试验对水体进行生物遗传毒性分析,结果表明:采用液氯消毒工艺的地表水厂在消毒后水样和用户端水样中检出的三卤甲烷含量较高,而采用二氧化氯消毒的地下水厂的出水中挥发性有机物仅略有上升;进行三卤甲烷浓度和生物遗传毒性之间的相关性分析得知,三卤甲烷和间接遗传毒性的相关性较好.     

基于在线检测信息的储罐底板腐蚀状态智能评价方法

为了解决利用声发射在线检测技术对储罐底板腐蚀状态进行评价时,主要依赖检测人员经验的问题,使该项技术能更好地推广和应用,利用储罐底板在线检测的声发射信息和外观检查信息,并根据相关标准及专家经验,确定与储罐底板腐蚀状态相关的表征因素。采用遗传算法(GA)改进贝叶斯网络(BN)搜索方法,建立基于GA的BN智能评价方法。针对声发射在线检测信息和外观检查信息,分别建立基于标准用声发射因素、基于声发射因素和综合考虑声发射因素和外观检查因素的基于在线检测信息的储罐底板腐蚀状态评价模型。通过对测试样本的评价,对比声发射检测专家评价结果,其中基于在线检测信息的储罐底板腐蚀状态评价模型的准确率为96%,该模型能够对储罐底板腐蚀状态进行可靠的智能评价。     

基于遗传算法的支持向量机预测有机物自燃点的研究

根据定量构效关系(QSPR)原理,研究自燃点(AIT)与其分子结构间的内在定量关系。以265种有机化合物作为样本集,随机选择238种作为训练集,27种作为测试集,用遗传算法(GA)进行变量选择,分别建立多元线性回归(MLR)模型和支持向量机(SVM)模型研究有机物的自燃点与其分子结构间的关系。通过分析,发现造成模型预测效果不佳的原因是试验数据本身存在问题。通过对2个模型的比较,结果为GA-SVM模型明显优于GA-MLR模型,说明自燃点与其分子结构间具有很强的非线性关系。     

昆虫抗菌肽及其基因工程研究进展

昆虫抗菌肽是一类具有免疫效应的小分子多肽,它具有热稳定、抗菌谱广、无免疫原性、作用机制独特等特性,是昆虫能够抵御自然界中许多有害微生物侵染的重要因素.近年来,随着有关抗菌肽作用机理及功能研究的深入,其在医药领域的应用越来越引起人们的关注.本文就昆虫抗菌肽的分类、生物功能、基因工程研究进展等作一综述.参33     

Optimizing mixture properties of biodiesel production using genetic algorithm-based evolutionary support vector machine

Nowadays, biodiesel is used as one of the alternative renewable energy due to the increasing energy demand. However, optimum production of biodiesel still requires a huge number of expensive and time-consuming laboratory tests. To address the problem, this research develops a novel Genetic Algorithm-based Evolutionary Support Vector Machine (GA-ESIM). The GA-ESIM is an Artificial Intelligence (AI)-based tool that combines K-means Chaotic Genetic Algorithm (KCGA) and Evolutionary Support Vector Machine Inference Model (ESIM). The ESIM is utilized as a supervised learning technique to establish a highly accurate prediction model between the input--output of biodiesel mixture properties; and the KCGA is used to perform the simulation to obtain the optimum mixture properties based on the prediction model. A real biodiesel experimental data is provided to validate the GA-ESIM performance. Our simulation results demonstrate that the GA-ESIM establishes a prediction model with better accuracy than other AI-based tool and thus obtains the mixture properties with the biodiesel yield of 99.9%, higher than the best experimental data record, 97.4%.     

铁路危险货物办理站点优化配置方法研究

铁路危险货物运输办理站点的优化配置,涉及到需求分布、设置地点、区域规划、环保要求、业务功能以及与其他运输方式的分工、衔接等,是一个复杂的系统工程。分析了已有铁路危险货物办理站点整合优化模型的不足,首先从铁路部门角度综合考虑现有铁路危险货物办理站点的各方面条件,进行多准则决策评价,从运输需求者角度考虑运输方式多属性决策,进行铁路危险货物办理站点的综合效用评价,并基于投资成本、环境风险、运输效用和区域公平性等方面构建了铁路危险货物办理站点优化配置模型,为了有效解决多站点、多需求、多区域、多目标铁路危险货物办理站点优化配置模型因素复杂、规模大、层次多的问题,提出了运用大系统分解协调的多目标遗传算法求解模型的思路。     

层状菱铁矿的定量成因分类

层状菱铁矿的成因分类,根据其分类基础,可分为两大类型:一是以地质作用和产出特征为背景的定性成因分类;二是以菱铁矿的某些化学组分为标准的定量成因分类。本文推荐一种新的定量分类标准,即利用siO_2—Al_2O_3—CaO+MgO三角图,将层状菱铁矿矿划分为三种成因类型:(1)沉积碎屑岩型层状菱铁矿;(2)海相火山沉积型层状菱铁矿;(3)海相沉积碳酸盐岩型层状菱铁矿。