A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei

Fluorescent in situ hybridization (FISH) with a 21q11-specific probe (CB21c1) consisting of three non-overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N = 19 and 28, respectively). In the uncultured amniocytes, six chromosome aberrations were detected: three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), and a mosaic 46,XY/47,XY,+dic(21)(q11)/48,XY,+dic(21)(q11), +del(21)(q11). In 15 cultured and 20 uncultured blood samples, FISH correctly diagnosed trisomy 21 (full or mosaic) at the interphase level, which was confirmed in all cases by subsequent karyotyping. Because of specific and strong signals in interphase nuclei, CB21c1 appears to be a useful tool for the rapid detection of chromosome 21 abnormalities.     

Cystic hygromata in trisomy 18 and 21

Prenatal diagnosis of cystic hygromata by means of ultrasound examination is possible and highly accurate. Although this is usually associated with Turner's syndrome especially if there is co-existent hydrops fetalis we report three cases in which cystic hygromata were associated with trisomies; two cases of trisomy 21 and one of trisomy 18.     

21世纪的化石燃料

本文全面论述了化石燃料在21世纪能源需求供给中的重要性、未来能源供给,以及未来能源利用对全球气候产生的影响.考虑了当前和潜在的替代能源.得出的结论是即使其他资源衍生的能源大幅增加,21世纪大部分时间内,化石燃料仍是主要能源,CO2的封存将成为越来越重要的要求.     

面向21世纪的中国生态学

持续发展是当代发展的主题。作为持续发展的理论基础之一的生态学，正在成为科学社会的一个热点．但是，在我国现实社会中生态学到底处于何种地位？在未来２１世纪，它又面临着怎样的挑战？在本文中，作者提出了讨论性的观点．１．针对生态学的国际前沿，参与全球性的生态环境研究计划；２．面向我国国民经济主战场．为我国经济和社会持续发展作贡献。     

Amniotic fluid enzymes in pregnancies with trisomy 21

The activities of a range of microvillous enzymes in amniotic fluid from normal pregnancies (n = 213) and those complicated by trisomy 21 (n = 26) were compared in a prospective study. Using a centrifugal analyser, the activities of leucine aminopeptidase (LAP), gamma glutamyl transferase (GGT), aspartate transferase (AST), and isoenzymes of alkaline phosphate (ALP) were measured in amniotic fluid alongside alpha fetoprotein (AFP) levels. Of the markers studied, LAP was found to be the most reliable indicator of trisomy 21. Using levels below the 5th percentile, LAP showed sensitivity 73 per cent, specificity 94 per cent, and predictive value positive 63 percent. Although these tests would not replace karyotyping in all cases, the measurement of LAP could be useful as a rapid initial screening test, particularly when amniocentesis is performed for indications other than chromosomal abnormalities.     

Novel mutations in the human CYP21 gene

The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, ∼5% and ∼2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of tetrasomy 21

Amniocentesis and prenatal diagnosis were done for late maternal age and an abnormality consistent with Tetrasomy 21 (47,XX,+t(21;21)) was found in every cell examined of the initial amniotic fluid. Clinical examination revealed a fetus with many of the signs of Down Syndrome and pathological examination revealed gross abnormalities of the internal structures. Follow-up tissues showed mosaic Tetrasomy 21.     

面向21世纪的环境监测

环境监测是环境保护的基础，面临新形式，未来环境监测将在监测对象、范围、监测性质、监测内容，监测手段等十个方面发生转变，我们必须抓住机遇，加快改革和发展。     

Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q)

Mosaicism for a structural chromosome abnormality in amniotic cell cultures indicative of true fetal mosaicism is a rare event. In addition to the laboratory findings the clinical interpretation for counselling in such cases is based on observation of the same abnormality in liveborns as well as previous experience with prenatal diagnosis of the same or similar abnormalities. We report here the prenatal diagnos is of 46,XX/46,XX,−21,+t(21q21q) which was confirmed in fetal skin cell and amnion cell cultures.     

廿一世纪昆明的生态文化建设与旅游城市形象塑造 —论昆明国际旅游城市的继承与创新

建造城市是人类文明的伟大成就之一。城市是各地区、各民族文明状况的重要标志 ,是我们文明最高抱负的真切表现。一个杰出城市的诞生 ,必然反映了一种杰出的文化。城市的结构、形态和面貌 ,受不同时期哲学、宗教和科学态度的影响。它也受到当时人们思维方式的影响。城市也是人类社会与自然环境接触的媒介 ,是这座城市中的居民在其周围山川河湖自然环境孕育之下 ,人们文化建设的集中体现。城市与其地方文化 ,如影随形。每一座城市又是一个有灵魂和个性的活体。城市的灵魂个性 ,就是城市固有的文化特征。结合城市的历史文化发展 ,刻画城市个性 ,弘扬城市的优秀文化精神 ,传播城市世世代代积累所形成的固有的城市文化精神 ,在继承的基础上 ,结合当今时代特点 ,创造城市的新文化内涵 ,塑造当代有个性的城市形象 ,乃是建设现代富有特色的廿一世纪旅游城市的必由之路     

绿色革命--21世纪人类的共同行动

从绿色经济，绿色产品和市场、绿色文明、绿色化学、绿色政治和清洁生产等方面介绍了21世纪环境领域的绿色发展情况。     

21世纪城市环境面临的最大挑战

本文分析了21世纪城市环境发展所面临的各种挑战，并进一步指出了水资源短缺和水环境污染是21世纪城市环境的最大挑战者和威胁者。在此基础上，提出了解决的对策措施。     

应对21世纪全球水危机——评《当江河枯竭的时候》

江河是人类最宝贵的淡水资源,灌溉了农田、哺育了人民。然而,世界上的大江大河正在陷入困境,水危机正在全球蔓延：在约旦河到达约旦之前,以色列人正用管道把它抽干;恒河流域连年干旱,因为印度在旱季抽干了这条圣河中所有的水;伟大的阿姆河,号称中亚的尼罗河,被改变了流向,引入大漠之中,导致咸海干涸;     

论21世纪环境新闻的走势

21世纪是一个绿色文明的世纪。本文主要从社会环境新闻的热点化、环境纪实报道的人文化、现代环境舆论的批判性、理性环境思维的前瞻性、绿色文明理念的世俗化和环境新闻风格的审美化几个方面论述了环境新闻的现代走势。     

Prenatal detection of monosomy 21 mosaicism

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.