Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.     

废水中磷的监测和处理

本文介绍了钼锑抗光度法测定污水中总磷在实际应用中应该注意的问题，并介绍了不同类型污水处理设施的除磷效率。则结果证明，常规二级污水处理工艺对总磷的去除率只能达到４０－５０％左右，迄今，化学混凝与生物过程一体化的处理系统可能是除灰最经济有效的办法。     

新时期中外高校体育教育思想发展趋势比较分析

本文介绍了德国和俄罗斯学校在体育发展的多方向、多功能的趋势，分析了我国高校体育教育的现状，从体育与健康课程整合的方面，提出高校体育应借鉴国外体育教育强国的思想观念，强调体育教改应重视学生身心的全面成长，贯穿“个体化、专项化、社会化”的思想。     

Time series analysis of elemental and isotopic data from biomineralized whale tissue

A temporal record of environmental conditions is often contained within accretionary biological tissue. These records can provide knowledge of the environmental conditions that existed at the time the tissue was formed. In this study, we look at trace element concentrations and isotopic ratios of carbon and nitrogen as contained in baleen from bowhead whales in the eastern and western Arctic Ocean. Time series techniques, including maximum likelihood method and likelihood ratio tests, are applied to analysis of data and inference about their mean structures.     

网络环境下信息检索语言的研究进展

本文通过对近年来国内外对网络环境下信息检索语言理论及应用性成果的研究，分析了检索语言的研究进展，并尝试性地对网络环境下这一领域的发展趋势进行了展望。     

网络环境下信息检索语言的研究进展

本文通过对近年来国内外对网络环境下信息检索语言理论及应用性成果的研究,分析了检索语言的研究进展,并尝试性地对网络环境下这一领域的发展趋势进行了展望。     

复合板的成形技术与发展趋势

介绍了目前复合板生产工艺的研究开发现状以及各种工艺方法的特点 ,探讨了复合板生产技术的发展趋势 ,认为连铸工艺是复合板技术的发展方向     

厦门西港表层沉积物中有机氯化合物的污染特征及变化趋势

利用GC－ECD对厦门西港1998年7月取得的8个站位表层沉积物中的18种有机氯农药（HCHs,DDTs)等和12种多氯联苯（PCBs)进行分析。其中有机氯农药的浓度范围ND（未检测出）－0．58ng/g(其中HCHs和DDTs的含量分别为ND－0．14ng/gND－0．06ng/g),多氯联苯的浓度为ND－0．32ng/g,与1986、1993年的厦门西港的分析结果相比较,污染程度明显降低;说明近年来的厦门的有机污染得到逐步控制,也与有机物随时间推移逐渐详解有关,分析表明多氯联苯和有机氯农药在厦门西港有着相似的分布特征。     

环厦门海域水色变化的多光谱多时相遥感分析

采用基于影像光谱信息建立的水质遥感模型对环厦门海域1989～2003年间的水色变化进行了分析.通过对水体及其所含物质的物理光学性质分析,水质遥感模型的建立可以不依赖于和卫星同步的水质采样数据建立水质遥感.这使得遥感对水色分析的应用更容易,而且还可以利用大量卫星存档数据来进行水质的历史变化分析.使用基于可见光和近红外波段反射率创建的模型研究了离水信号和水中物质(悬浮物和浮游植物)的关系.提出了一套可用于Landsat TM/ETM 和SPOT 5影像的水专题处理流程,并用于揭示所研究海域中悬浮物和叶绿素浓度的时空变化规律.研究表明,利用基于影像光谱的水质遥感模型,可以快速有效地揭示长时间范围内水色的时空变化.总的看来,环厦门海域的悬浮物浓度在所研究的时期内,有显著的增加,叶绿素的浓度在局部也有明显的升高.最明显的是,高悬浮物浓度的海域面积所占的比例从1989年的0.2%上升到2003年的10.2%.综合分析表明,九龙江河口所带来的巨量悬浮物是该海域最主要的陆源排海物和污染源,过度的水产养殖是另一个主要的污染因子.     

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by fish

In a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow-up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34-year-old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.