Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.     

S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus

The aim of this study was to determine whether there is increased leakage of neuron-specific enolase (NSE) and S-100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis. Amniotic samples from 25 mid-pregnancies (15–17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid-pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid-pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation. It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S-100 assay alone proved to be superior for the detection of these cases in mid-trimester amniotic fluid. The S-100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.     

Anatomic correlates of ultrasonographic prenatal diagnosis

In utero sonographic diagnoses from forty-five malformed infants were correlated with their autopsy findings. Fifty-two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.     

1998年厄尔尼诺后珊瑚礁的侵蚀与恢复:印度洋查戈斯礁群

在印度洋中部查戈斯礁群的大多数珊瑚死亡之后3年,对30m水深以浅珊瑚的侵蚀和恢复情况进行了研究.北部环礁15m水深以浅、中部和南部环礁＞35m处的珊瑚差不多全部死亡.由于密集珊瑚丛的损失,一些礁体"表面"下降了1 5m.珊瑚的生物侵蚀情况严重,减少了三维礁体"结构"并形成松散的碎石.幼年珊瑚数量众多,尽管大部分是在侵蚀的或不稳定的基底上,并且稳定种较少.在15m的深度,礁体间鱼类丰度和多样性仍旧较高;依赖于珊瑚生存的物种减少,而一些食草动物和食碎屑动物则增加.一个新的海面温度(SST)数据集表明,平均SST自1950年以来升高了0.65℃.造成查戈斯珊瑚礁死亡的临界SST是29.9℃.     

含硫污水系统耐蚀材料的筛选与应用

针对西北地区一综合炼油厂含硫污水管线的严重腐蚀问题，分析了腐蚀原因，确立了材料筛选方案，通过实验室静态挂片试验绘制了重量损失率变化曲线和现场挂片等试验手段，筛选推荐出了树脂玻璃钢耐蚀材料。工业生产应用结果表明，MFE-2型树脂玻璃钢是适用于该厂含硫污水系统的耐蚀材料，为类似装置的长周期运行提供了借鉴和经验。     

Results of a questionnaire investigation on the management of environmental issues during conceptual design. A case study of two large made-to-order companies

This paper investigates the current treatment of environmental issues by two companies within the large made-to-order sector. Fifty questionnaires were issued to the design team of each company to assess current practice in the integration of environmental issues with design activities, awareness of environmental issues, awareness of existing environmental design tools and the preferred format for a potential clean design tool.     

长江,嘉陵江重庆城区段二维水质对流扩散数学模型

对二水质对流扩散数学模型的有限差分解作了较详细的叙述，同时对距离步长，时间步长计算，网络内水深，流速，横向扩散系数的求取也作了简要介绍。