Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

In this study, we describe a simple strategy to detect β-thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non-radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

对赛罕乌拉自然保护区开展生态旅游的思考

本文在系统科学考察的基础上，对赛罕乌拉自然保护区开展生态旅游提出个人见解，并对当地生态旅游资源进行了评价，对环境旅游进行规划分析，对提高经济效益进行预测。     

环境中二噁(口英)及其检测技术进展

从二(?)(?)类化合物的结构、来源、毒性等简要说明对其监测的必要性,且从仪器监测(包括气相色谱、气质联用、串联质谱等)和生物监测(包括利用指示生物、生物标志物等)概述了80年代以来国内外对二(?)(?)类物质尤其是几种极毒性化合物如多氯代二苯二(?)(?)(PCDDs)和多氯代二苯呋喃(PCDFs)等化合物的检测技术成果。     

岩溶石笋的古环境研究进展

全球变化研究的热点问题是获得十年到百年甚至年月分辨的气候变化规律。岩溶石笋因其诸多优点 ,将在古环境研究中发挥越来越重要的作用。本文从当前研究的现状出发 ,在石笋微层年层对比、微层形成机制、稳定同位素记录、灰度、生长率、微量元素以及紫外激光诱发荧光等方面的研究进行了综述 ,并结合自身研究成果 ,提出了自己的看法     

垃圾焚烧炉飞灰的低温玻璃固化初步研究

在研究我国城市生活垃圾焚烧炉飞灰的毒性特征和高温灼烧特性的基础上，试验了几种常用玻璃熔制助溶剂、烟气净化产物中的成分对飞灰的溶融温度和熔融减量的影响，以实现低温玻璃固化。实验发现受热温度越高、时间越长，飞灰减量越大；B2O3、硼砂、CaF2对飞灰助溶效果明显，而废玻璃、CaO、CaCl2能使悄灰溶融后形成的玻璃态物质地均匀、少孔。按一定比例同时加入硼砂、CaF2、废玻璃、CaO、CaCl2于飞灰中，混合物的熔融温度降到1000℃以下，大大低于飞灰自身的熔融温度（1200℃）。对该熔融物在空气中淬火形成的玻璃态物质按标准方法浸沥，选择测量了浸出液中铅、汞、镉、砷的浓度，初步发现低温玻璃态物质对重金属铅和镉具有较好的固化效果，而对汞有砷的固化效果尚不确定。     

长芒刺电除尘器性能研究

提出一种新型长芒刺电除尘器,理论与实验研究结果表明,长芒刺电除尘器的场强、伏安特性和除尘效率等性能均高于普通线板式电除尘器。     

铁路环境噪声对居民冲击影响的模糊综合评价

铁路环境噪声对居民的冲击影响程度不仅与列车运行辐射噪声级有关，而且还与人口密度，及白天、夜间的人口比例等因素有关。考虑以上诸多因素，采用模糊综合评价方法进行铁路环境噪声对居民的冲击影响的综合比较评价，并通过实例验证了该方法的有效性和可靠性，为铁路环境噪声评价提供了新的方法。     

国内机动车尾气污染及其防治

本文分析了汽车尾气的成分及各成份对人体健康的毒害和影响，并在说明国内机动车尾气污染现状及发展趋势的基础上，分析了机动车尾气污染的原因和造成大气污染的几大因素，提出了防治对策。     

不同品牌香烟烟雾中有机成分的分析

采用气－质联用技术（GC－MS）分析了我国市场上常见的近20种香烟烟雾中有机成分，为评价吸烟对人体健康的危害性提供资料，分析结果表明，这些香烟中，含有苯类衍生物，杂环类化合物及多环化合物等，从36种到131种不等，绝大多数有害人体健康。