Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

新型伞形罩烟气洗涤器的性能研究

针对中小型燃煤锅炉的粉尘和二氧化硫等有害气体的污染问题,开发出一种新型伞形罩烟气洗涤器。以粉煤灰、空气和水为物系,测试了伞形罩烟气洗涤器的压降(ΔP)、除尘效率和动力消耗。实验的入口气速为10～18m/s,含尘浓度为2～22g/m3,液气比(L/G)0～0.8L/m3。结果表明:伞形罩洗涤器的ΔP较小,在250～750Pa范围内;当L/G为0.2L/m3时,除尘效率达98.8%以上,动力消耗约0.06×10-3kW.h/m3(气体约216Pa),实现节能高效的目的。     

锅壳锅炉后管板孔桥裂纹事故的分析及处理

分析了锅壳锅炉后管板裂纹产生的原因，阐述了事故发生的机理和处理方法。     

乌鲁木齐市东南部荒山植被类型及其特征

采用典型样地法对乌鲁木齐市东部荒山植被进行了调查.依据中国植被和新疆植被分类的原则,遵循群落学-生态学原则,用重要值优势度分类方法确定各层片优势种.将此地区自然植被划分为5个植被型,8个植被亚型、20个群系和24个群丛.并对植被型的基本特征进行了分析和描述.     

塔克拉玛干沙漠腹地沙尘暴特征--以塔中地区为例

塔克拉玛干沙漠是中国油气开发的重要区域，沙尘暴是该区域重要的灾害性天气，但以往相关的研究很少。为了了解塔克拉玛干沙漠腹地沙尘暴的发生规律，利用塔中气象站1997-2002年的气象资料，对塔中地区沙尘暴的强度、过程、类型和时间变化等特征进行了分析。研究结果表明：（1）塔中年平均沙尘暴日数为16．83d，较沙漠北缘的轮台和沙漠南缘的民丰、和田为多，体现出沙尘源对沙尘暴发生的影响；（2）沙尘暴发生之前出现明显的风速突然降低和风向转换；（3）同塔里木盆地其它区域一样，塔中沙尘暴也可分为5种类型，其主导类型为冷空气东灌型；（4）沙尘暴时间变化规律明显，且从20世纪90年代至21世纪初，塔中沙尘暴日数与持时明显下降，同全疆的变化趋势一致。     

重力挡土墙地震反应研究评述

首先，对重力挡土墙的地震反应机理进行了探讨，在此基础上简要回顾了国内外抗震设计规范的演变进程；然后，对挡土墙地震反应的研究方法进行了细致评述，包括拟静力极限平衡分析法、简化条件解析法、极限位移法、地震土压力简化公式、集总参数法、整体有限元法、现场地震调查、离心机试验、振动台试验和原型观测实验等；最后，指出了需要解决的问题并提出了今后的研究方向。     

广东省的地质灾害与防治对策

广东省地质灾害类型多,分布广,频率高,危害大.地震、滑坡、崩塌、地裂缝、地面塌陷、地面沉降和软土地基变形等地质灾害是影响当地经济发展和城乡建设的消极因素.地质灾害的时间分布具有波动性,过去35年来存在两个明显的高发期,分别是1985-1992年和1997年至今;其空间分布具有区域耦合性,地质构造复杂、自然环境恶劣的粤西、粤北低山丘陵区和人类活动剧烈、经济发达的沿海平原地区都是重灾区.地质灾害与自然条件、人类活动关系密切.它们的防治应以防为主,防治结合,将生态与工程措施相结合,并调整人类的经济行为,保持生态环境的平衡.     

Fuzzy experts on recreational vessels, a risk modelling approach for marine invasions

Understanding risks from the human-mediated spread of non-indigenous species (NIS) is a critical component of marine biosecurity management programmes. Recreational boating is well-recognised as a NIS pathway, especially at a regional scale. Assessment of risks from this pathway is therefore desirable for coastal environments where recreational boating occurs. However, formal or quantitative risk assessment for the recreational vessel pathway is often hampered by lack of data, hence often relies on expert opinion. The use of expert opinion itself is sometimes limited by its inherent vagueness, which can be an important source of uncertainty that reduces the validity and applicability of the assessment. Fuzzy logic, specifically interval type-2 fuzzy logic, is able to model and propagate this type of uncertainty, and is a useful technique in risk assessment where expert opinion is relied upon. The present paper describes the implementation of a NIS fuzzy expert system (FES) for assessing the risk of invasion in marine environments via recreational vessels. The FES was based on expert opinion gathered through systematic elicitation exercises, designed to acknowledge important uncertainty sources (e.g., underspecificity and ambiguity). The FES, using interval type-2 fuzzy logic, calculated an invasion risk value (integrating NIS infection and detection probabilities) for a range of invasion scenarios. These scenarios were defined by all possible combinations of two vessel types (moored and trailered), five vessel components (hull, deck, internal spaces, anchor, fishing gear), two infection modes (fouling, water/sediment retention) and six frequently visited marine habitats (marina, mooring, farm, ramp, wharf, anchorage). Although invasion risk values determined using the FES approach was scenario-specific, general patterns were identified. Moored vessels consistently showed higher invasion risk values than trailered vessels. Invasion risk values were higher for anchorages, moorings and wharves. Similarly, hull-fouling was revealed as the highest infection risk mode after pooling results across all habitats. The NIS fuzzy expert system presented here appears as a valuable prioritising and decision-making tool for NIS research, prevention and control activities. Its easy implementation and wide applicability should encourage the development and application of this type of system as an integral part of biosecurity, and other environmental management plans.     

缙云山土地利用方式对土壤轻组及颗粒态有机碳氮的影响

选取缙云山阳坡同一海拔处亚热带常绿阔叶林(以下简称林地)、果园、坡耕地和撂荒地这4种不同土地利用类型,在0~60 cm深度内每隔10 cm采集一个土样,测定土壤轻组有机碳氮(LFOC、LFON)和颗粒态有机碳氮(POC、PON)含量,并计算其分配比例和碳氮比.结果表明,在0~60 cm土壤深度范围内,林地转变为坡耕地后,LFOC及LFON含量分别降低了71.42%和38.46%(P0.05),转变为果园后变化不明显,坡耕地撂荒后其含量分别升高了3.77倍和1.38倍(P0.05);林地转变为坡耕地或果园后,POC及PON含量均无明显变化,而坡耕地撂荒后其含量分别增加了4.12和1.25倍(P0.05).林地转变为坡耕地后土壤LFOC及LFON分配比例显著降低,转变为果园后则明显升高,而POC及PON分配比例变化均不明显;坡耕地撂荒后,LFOC、LFON、POC、PON分配比例均显著增加.土壤SOC/TN为撂荒地(12.93)林地(8.53)果园(7.52)坡耕地(4.40),LFOC/LFON为撂荒地(16.32)林地(14.29)果园(11.32)坡耕地(7.60),POC/PON为撂荒地(23.41)坡耕地(13.85)林地(10.30)果园(9.64).以上研究结果表明林地开垦为果园或坡耕地后容易导致土壤轻组有机碳氮的损失,而坡耕地撂荒则有利于土壤活性有机碳氮的积累;林地转变为坡耕地减弱了土壤有机碳氮的活性,而林地转变为果园以及坡耕地撂荒均使土壤有机碳氮活性增强;林地转变为坡耕地和果园加剧了土壤有机质的矿化,相对而言,坡耕地撂荒后有利于土壤有机质的固定.     

长江口-浙闽沿岸沉积色素的分布特征及其指示意义

利用高效液相色谱法分析了长江口-浙闽沿岸表层沉积物中的色素组成和含量,探讨了海洋初级生产力、浮游植物功能类群和浮游植物色素保存效率的空间分布特征及其影响因素.结果表明,沉积物中的色素类型主要为沉积绿素(chloropigments,Chlorins)[包括叶绿素a(chlorophyll-a,Chl-a)及其降解产物(pheopigments,Pheo-a),如脱镁叶绿素a(pheophytin-a,PHtin-a)、脱镁叶绿酸a(pheophorbide-a,PHide-a)、焦脱镁叶绿素a(p Pheophytin-a,p PHtin-a)、甾醇绿素酯(sterol chlorin esters,SCEs)和胡萝卜醇绿素酯(carotenol chlorin esters,CCEs)].Chlorins高值区呈南北两大斑块状分布,可能主要是受到长江冲淡水及浙闽沿岸泥质区上升流输运的营养盐的影响.研究区域内类胡萝卜素整体上无明显趋势性变化,在长江口以及浙闽沿岸各呈现一个高值区.基于沉积物中特征类胡萝卜素比例估算得到的浮游植物功能类群中硅藻、甲藻、定鞭藻、青绿藻、隐藻和蓝藻的相对贡献分别为48.8%±17.4%、10.7%±11.5%、8.1%±7.2%、18.6%±8.2%、9.4%±6.4%和4.3%±3.2%.对营养盐水平、水体盐度等外界环境的偏好导致硅藻和甲藻比例离岸降低,青绿藻、隐藻和蓝藻比例离岸增加.Chl-a/Pheo-a比值的分布表明,较高的沉积速率以及季节性的底层水体缺氧事件导致了近岸海域(长江口最大浑浊带外缘、杭州湾湾口以及浙闽沿岸上升流区)具有较高的沉积色素保存效率,这些沉积色素保存效率较高的区域可能是进行海洋生态环境历史重建的理想区域,而杭州湾水体通过舟山群岛与外部海水进行水体交换时造成的较差沉积环境可能是导致杭州湾外海具有较低沉积色素含量和较低保存效率的主要原因.