教学课程资源库 更多>>

关键词： PUBLIC administration   BIOETHICS   COMMITTEES   GOAL (Psychology)   PHARMACEUTICAL industry   RESEARCH ethics  

摘要： In the forty-year history of U.S. bioethics commissions, these government-sanctioned forums have often demonstrated their power to address pressing problems and to enable policy change. For example, the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research, established in 1974, left a legacy of reports that were translated into regulations and had an enormous practical impact. And the 1982 report Splicing Life, by the President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research, became the basis for the National Institutes of Health’s Recombinant DNA Advisory Committee as well as for the Food and Drug Administration’s developing "Points to Consider" when contemplating the introduction of recombinant DNA into human beings. Some efforts of bioethics commissions, however, are not tightly connected to policy change or to outcomes directly linked to a specific report. While direct policy impact is indeed a useful metric for government bioethics commissions, it is not their only legitimate utility. For instance, bioethics commissions can also be incubators for deliberation on a hot topic, giving policy-makers time to think through options while the political heat has some time to dissipate. Or a bioethics commission may stake out a position that enables a politician to take action while not necessarily following its recommendations.(© 2017 The Hastings Center.)

关键词： PUBLIC administration   BIOETHICS   EBOLA virus disease   EPIDEMICS   IMMUNIZATION   WORLD health  

摘要： Over the course of six years and more than two dozen meetings, members of the Presidential Commission for the Study of Bioethical Issues learned so many things: about emerging science; technological challenges; citizen engagement; the public’s, experts’, and our own understandings and misperceptions; and even the nature of our own most cherished values. Our commission’s commitment to democratic deliberation began deliberatively, when we decided (in the summer of 2010) upon basic principles to guide our first report. At the time, Craig Venter had just announced that he had used techniques of synthetic biology to “create life,” albeit the most elementary form of life, from nonliving building blocks. Headlines alternated between applauding Venter for creating life and accusing him of playing God. It was one of those all-too-frequent instances where sound-bite democracy was headed toward shedding more heat and fear than light and understanding. The commission was asked to take synthetic biology under review and make recommendations to President Obama on how to proceed. We saw the need to question the most salient facts of the matter: what were the fundamental values at stake in this kind of discovery?

关键词： BIOETHICS   COMMITTEES   GENETIC techniques   HUMAN reproductive technology  

摘要： Cloning was the issue that put the National Bioethics Advisory Commission on the map, but the first clue that NBAC would address cloning was a terse fax from the White House to each of us who served on the Commission. The fax noted that with the birth of the sheep named Dolly, mammalian cloning was now a reality, and it tasked NBAC with providing advice on the ethics of human cloning and how the nation should respond to it. We were given ninety days to report our findings. That’s a very tight deadline for a report written by a committee, but we met it, and along the way, I learned important lessons. My goal in this essay is to share what I learned at the ramparts of what I will call, with apologies to George Lucas, the Cloning Wars and through NBAC’s work on five additional reports.(© 2017 The Hastings Center.)

关键词： Arrhythmia   genetics   hot bath   next-generation sequencing   sudden unexpected death  

摘要： We report a case of sudden unexpected death of a young woman who was found in a bathtub of hot water. The autopsy concluded that all possible causes of sudden loss of consciousness, except cardiac origin, could be excluded. However, the heart did not show any obvious pathological changes. We used next-generation DNA sequencing (NGS) to examine 73 genes and detected 3 rare, potentially pathogenic variants with minor allele frequencies <= 1.0%. The pathogenicity of these variants was evaluated using 8 in silico predictive algorithms, and SCN5A_p. Gly289Ser, CACNB2_p. Ser502Leu, and MYH11_***1573Glu were detected as possible pathogenic variants. Inherited heart disease is a likely cause of sudden unexpected deaths of young people in hot baths, even before the clinical manifestation of the disease. In the future, molecular analysis by NGS may help to predict young to early middle-aged people who could be at risk of sudden arrhythmogenic fatality in hot baths.

关键词： 结核分枝杆菌   链霉素   DNA测序   耐药性  

摘要： 为检测结核分枝杆菌链霉素(streptomycin,SM)耐药性,分析耐药基因突变,探讨DNA测序分析技术在结核分枝杆菌链霉素耐药性检测中的应用价值。采用方法:1、用传统的比例法药敏试验对49株结核分枝杆菌临床分离株进行链霉素耐药性检测。2、用DNA测序分析技术对49株结核分枝杆菌临床分离株进行链霉素耐药相关基因Rpsl和rrs的突变位点分析,筛查耐药相关突变位点。3、探讨DNA测序分析技术对结核分枝杆菌临床分离株进行链霉素耐药性检测的效率。结果:1、传统比例法药敏试验结果显示,49株实验菌株中16株为链霉素耐药株,33株为链霉素敏感株。2、Rpsl基因DNA测序。结果显示:Rpsl基因只存在一个突变位点,为第43位密码子AAG的突变,突变形式为AAG→AGG,氨基酸由赖氨酸(Lys)变为精氨酸(Arg)。rrs基因DNA测序结果发现:rrs基因共存在5个突变位点,分别为第513位碱基A突变为G、第523位碱基A缺失、第598位碱基A突变为G、第599位碱基A缺失、第612位碱基A缺失,其中第513位碱基突变只存在于链霉素耐药株中,其余4个突变位点在耐药株和敏感株中均存在。即初步认为Rpsl基因第43位密码子的突变及rrs基因第513位碱基的突变与结核分枝杆菌链霉素耐药性有关。3、分析Rpsl基因和rrs基因突变与结核分枝杆菌链霉素耐药性之间的关系,结果显示:16株链霉素耐药株中13株存在Rpsl基因第43位密码子的突变,1株存在rrs基因第513位碱基的突变。以传统的比例法药敏结果为参照,以DNA测序分析Rpsl基因或rrs基因发现Ppsl基因发生第43位密码子或rrs基因第513位碱基突变为判断菌株耐药的标准,DNA测序分析技术对结核分枝杆菌链霉素耐药性检测的敏感性为87.5%,特异性为96.97%。由此可知,初步认为Rpsl基因第43位密码子的突变及rrs基因第513位碱基的突变与结核分枝杆菌链霉素耐药性有关。用DNA测序分析结核分枝杆菌Rpsl基因和rrs基因链霉素耐药相关突变,判断结核杆菌链霉素耐药性具有较好的灵敏度和特异性,耗时短,在链霉素耐药结核病的快速诊断方面具有一定的应用价值。

关键词： 海洋底栖纤毛虫   物种多样性   分子多样性   DNA高通量测序   c   DNA高通量测序  

摘要： 高通量测序技术广泛应用于环境真核微生物多样性的研究,可检获较之传统形态学方法更高的多样性。然而,检获的高分子多样性与基于形态的物种多样性在构成上的差异仍然不明。本研究首次对比分析了基于形态学的南黄海沉积物中的纤毛虫物种多样性与基于核糖体18S DNA和c DNA高通量测序的多样性异同。结果表明:形态鉴定获得8纲、20目、30科、36属共97种纤毛虫;DNA测序检获10纲、28目、55科、76属共174个OTUs;而通过c DNA测序获取的纤毛虫多样性最高,获10纲、31目、68科、99属共284个OTUs。研究发现,形态学方法检获的纤毛虫均为底栖生纤毛虫;两种分子手段检获的多样性更高,群落结构更为近似,覆盖了形态鉴定所获的绝大部分类群。但DNA测序还检获了序列比例高达90%的浮游类群,可能源于包囊或死亡沉降的物种;而c DNA测序检获了约7%的浮游纤毛虫序列。较之DNA测序,c DNA法检获的底栖纤毛虫在群落结构上与形态学结果更为接近。本研究表明,分子手段有助于更全面地揭示沉积物中的纤毛虫多样性,DNA测序可同时揭示休眠包囊、胞外DNA及过去群落的信息,而c DNA测序在研究活动纤毛虫多样性上更有优势。

关键词： 多指(趾)并指(趾)   GLI3基因   DNA测序   基因突变  

摘要： 目的对1个先天性多指（趾）并指（趾）畸形（synpolydactyly）家系进行GLI3基因的突变分析。方法应用Sanger法检测先证者GLI3基因的突变，并在家系其他成员及100名正常对照中进行验证。结果测序显示该家系中的3例患者均发生了GLI3基因的C．480dupC（***6lfs）杂合移码突变，导致其蛋白质产物从第161位氨基酸开始编码紊乱。在该家系的正常成员以及100名无亲缘关系的正常对照中未检测到同样的突变。结论GLI3基因C．480dupC（***61fs）杂合突变可能为该家系的发病原因。上述突变的发现进一步丰富了GLI3基因的突变谱。

关键词： 植物分子育种   课程改革   教学内容   教学方式   转基因  

摘要： 植物分子育种是农科类本科生的专业核心课程,本文对该课程开设的必要性、课程内容、教学方式、实验教学和考核方式等方面的改革进行综合分析,以期在提高课程教学质量的同时,使大学生在转基因知识传播和普及中发挥重要作用。

关键词： 番茄红素   多酶调控   支架   基因工程   多片段组装  

摘要： 作为类异戊二烯化合物中四萜的代表性产品番茄红素,在生物体中是典型的多酶参与催化的反应产物,在2-甲基-D-赤藓糖醇-4-磷酸盐(MEP)和甲羟戊酸(MVA)合成途径中起着至关重要的作用。从番茄红素在原核和真核中的多酶合成途径出发,针对番茄红素合成途径的各种优化策略,首先介绍了多酶合成中的常规调控方法,包括多基因共表达质粒构建、基因顺序调控、启动子与核糖体结合位点调控及基因敲除和替换等方法。之后介绍了一些新型的多酶调控方法,包括多片段组装技术、人工支架自组装方法等。最后重点介绍了这些多酶调控方法在番茄红素合成中的应用。这些多酶合成调控方法为构建高产番茄红素菌株提供了极大的启发和研究基础。