美科学家破译人类第2、4号染色体

美国国家人类基因组研究所前些时候宣布，来自多个科研机构的专家们已经完成了对人类第2和第4号染色体的解码分析工作。他们除了在两条染色体上发现大片“基因沙漠”外，也进一步证实了人类第2号染色体是由古猿的两条染色体融合而来。     

基于全基因组序列的水稻基因组系统研究

“水稻基因组计划”是继人类基因组计划之后的,第一个大型农作物基因组计划。中国在激烈的国际竞争中,领先、独立完成了中国水稻基因组的序列框架图和精细图的绘制,成功研制了世界上第一套全基因组水稻基因芯片。开展了基因组学的系统研究：从籼、粳稻基因组的比较到序列多态性研究;从基因表达到蛋白质图谱,全方位的对水稻从胚芽到成熟的生长发育过程,进行了基本信息的采集和研究。揭示了水稻在家养化进化过程中基因变异和演化的基本规律,及人工选育过程中产生的性状与野生稻性状的关系和分子机理,为全面探讨水稻的一般遗传规律及高产、优质、抗逆的性状的选择奠定了坚实的基础,也为生态和生物多样性保护及选种育种提供了理论依据。“中国杂交水稻基因组计划”的阶段性成果,不仅在大科学工程研究上创造了低投入高产出的世界性范例,也开创了对一个重要农业物种进行原创性的,结构与功能,基础与应用相结合的系统研究先例。是中国在生命科学的系统研究领域中标志性的一大步。其成果无疑会对未来世界和中国的农业科学发展产生巨大而深远的影响。中国在高通量生物技术和高性能海量生物信息处理分析方面已经跻身于世界强国之列。     

揭开世界性系统农牧渔业基因组研究的序幕

以基因组测序为先导的农牧渔业系统基因组学研究是一项需要国际间进行协同攻关和紧密合作的重大项目计划。这种以应用为目的的基础科学研究项目无论是对发达国家还是对发展中国家而言都是非常重要和必要的。然而，我们必须清醒地意识到，当人类基因组和其他许多同人类健康相关的基因组以及一些模式生物基因组已经或即将被测序时，重要的农作物、牲畜、水产品基因组所受到的重视还远远不够。虽然我们正面对诸如政策制订、资金申请、地方发展重点、研究团体共识及技术革新等多方面的问题和挑战，人们还是提出了许多有关大规模测序及其投资收益的倡议或计划。由于大规模测序即全基因组鸟枪法(Wh01e Genome Shotgun or WGS)所产生的序列草图能覆盖整个基因组95％至99％的区域，从基因组草图中识别的基因连带其他资源比如分子标记、大片段插入克隆和cDNA序列的知识，为农牧渔业和环境生物学提供了丰富的信息和大量的工具。一旦这项重大计划得以实施并取得成功，所有国家的分子生物学家、遗传学家、实验生物学家。无论富裕或贫穷，都将站在同一科学起点上，基础基因组学信息的又一次大爆发将使我们的生活和环境拥有一个更美好的未来。我们热切呼吁全世界的各个研究基金会，也呼吁各个国家和国际政府机构与组织共同支持这场伟大的项目计划。     

《人类基因组编辑:科学、伦理和监管》报告提出监管的一般性原则

<正>2017年初,人类基因组编辑委员会发布一份题为《人类基因组编辑:科学、伦理和监管》的综合性报告,在总结基因编辑现状的基础上,提出人类基因组编辑监管的7个一般性原则。促进福祉原则:支持提供福利和防止对受影响者的伤害。遵循这一原则的责任包括:(1)研究应有利于促进个人健康和福祉,如治疗或预防疾病的人类基因组编辑技术,同时降低在早期应用于人体时存在的高度不确定性风险;(2)对人类基因组编辑的任何应用都应合理平衡风险和利益。     

酵母染色体人工合成取得重大突破

<正>2017年3月10日,国际顶尖科学期刊《Science》以封面专刊形式发表7篇论文,报道了合成生物学领域的一项重大突破性进展:完成酵母2号、5号、6号、10号和12号这5条染色体的重头设计与全合成。其中中国团队完成4篇,包括天津大学元英进团队2篇,清华大学生命科学院戴俊彪团队1篇,华大基因杨焕明院士团队合作发表1篇。人造酵母的诞生预示着人工合成生命新纪元的到来,该领域的快速突破将为健康、能源、环境、农业等领域带来颠覆性的变化。     

基于光诱导介电泳的微纳米生物粒子操纵平台关键技术

在分析介电泳的微纳米生物粒子操纵研究现状和存在问题基础上,研究了基于光诱导介电泳的微纳米生物粒子操纵的理论基础和建模仿真,给出了光诱导介电泳芯片在空间电场分布和不同高度介电泳力分布关系．在此基础上进行微操纵系统的核心部件——光电导层芯片的选材、制作工艺和性能分析测试,给出了悬浮液层分压和有效电压频谱关系图．最后,组合机器视觉检测与实时跟踪子系统,构建了基于光诱导介电泳的微纳米生物粒子操纵实验平台,完成了对微纳米生物粒子快速聚集、输运、分离等操纵实验,为建立以微流控芯片为基础的重大疾病的快速、准确、低成本的检测和早期诊断提供了基础．     

《人类基因组编辑:科学、伦理和监管》报告为基因组编辑建言献策

<正>2017年初,人类基因组编辑委员会发布一份题为《人类基因组编辑:科学、伦理和监管》的综合性报告,总结了基因编辑当前应用情况和面临的政策问题,明确了在可遗传的生殖细胞编辑的临床试验许可之前必须具备的条件和人类基因组编辑监管的7个一般性原则。并在此基础上提出了若干建议:1)在人类基因组编辑监管方面考虑和应用全球原则。2)使用现有的监管程序来监督人类基因组编辑实验室研究。     

国际科技组织影响力评价指标体系构建及实证研究

国际科技组织影响力决定其发挥多边合作作用、实现社会使命的能力。构建国际科技组织影响力评价指标体系,有助于判断不同国际科技组织影响力的水平高低,为推动我国科研人员在具有影响力的国际科技组织任职提供参考。本研究利用文献调研法、文献计量法以及德尔菲法,从学术影响力、社会影响力、全球治理影响力三方面构建了国际科技组织影响力评价指标体系,包括3个一级指标和12个二级指标,借助德尔菲法为指标赋权,并采用客观数据对地学类19个国际科技组织进行实证分析。结果显示,本研究设计的国际科技组织影响力评价指标体系和指标量化公式较为科学合理,可操作性和实践应用价值较高,可以为促进我国科学家在国际科技组织任职、推动我国主导的国际科技组织的发展提供参考。     

AB型新单体及PBO树脂制备的新技术及其发展

研究以4,6-二硝基间苯二酚(DNR)和对苯二甲酸单甲酯(TAM)为原料,经三个单元过程合成AB型新单体:2-(对甲氧羰基苯基)-5-氨基-6-羟基苯并噁唑(MAB),进而均缩聚反应制备聚对苯撑苯并二噁唑(PBO)的新路线和新方法,设计了AB型新单体的产业化方案、并阐述了优于AA型单体4,6-二氨基间苯二酚(DAR)路线的特点;同时针对现有PBO技术中存在的问题,提出解决的方法和研究思路,最后对进一步发展AB型新单体:如4-(5-氨基-6-羟基-2-苯并噁唑)苯甲酸(ABA)和H2N-[PBO重复单元]-COOH结构等单体、以及高性价比PBO树脂的研究内容作了建议。     

全球变化研究中的"科学政治化"倾向--以美国气候政策为例

在国际社会为防止、适应全球变化的努力中,会涉及到国家、地方和民族的诸多利益。全球变化研究成为与国家安全、食物供应、水资源、温室气体排放、人类健康等问题密切相关的社会问题。美国为国际全球变化研究做出了突出的贡献,但当国际气候框架与其国内经济发展出现冲突时,美国的气候政策也开始了以保障国内经济发展和企业利益的调整,作为国家支持的全球变化研究也需要针对这些调整而不断修正研究方向和关注重点,为有利于美国的政治和政策服务,表现出了明显的“科学政治化”倾向。本文分析了美国自2001年3月退出《京都议定书》以来的一系列的政策和研究支持的调整,尤其对美国的《京都议定书》替代方案《晴朗天空与全球气候变化行动》进行了深入的分析。根据这些分析,可以对国际全球变化研究与国家政治和利益的关系有一个总体的了解,为我国科研工作者和生产企业提供有益借鉴。     

硼的生物效应及健康影响研究进展

硼是动物所必需的一种微量元素，硼缺乏和硼过量都会产生不利的影响。通过动物试验，硼污染问题已经开始引起人们的重视。美国已将硼列入环境雌激素重点研究化学品之一。已有的三项针对硼作业人群的生殖健康影响研究结果不一致。有的研究表明缺硼或硼污染对人体健康均有害。本文对近30年来有关硼的生物效应及其对人体健康影响的研究进展进行了总结，并对今后研究方向提出了建议。     

Helmholtz's Kant revisited (Once more). The all-pervasive nature of Helmholtz's struggle with Kant's Anschauung

In this analysis, the classical problem of Hermann von Helmholtz's (1821–1894) Kantianism is explored from a particular vantage point, that to my knowledge, has not received the attention it deserves notwithstanding its possible key role in disentangling Helmholtz's relation to Kant's critical project. More particularly, we will focus on Helmholtz's critical engagement with Kant's concept of intuition [Anschauung] and (the related issue of) his dissatisfaction with Kant's doctrinal dualism. In doing so, it soon becomes clear that both (i) crucially mediated Helmholtz's idiosyncratic appropriation and criticism of (certain aspects of) Kant's critical project, and (ii) can be considered as a common denominator in a variety of issues that are usually addressed separately under the general header of (the problem of) Helmholtz's Kantianism. The perspective offered in this analysis can not only shed interesting new light on some interpretive issues that have become commonplace in discussions on Helmholtz's Kantianism, but also offers a particular way of connecting seemingly unrelated dimensions of Helmholtz's engagement with Kant's critical project (e.g. Helmholtz's views on causality and space). Furthermore, it amounts to the rather surprising conclusion that Helmholtz's most drastic revision of Kant's project pertains to his assumption of free will as a formal condition of experience and knowledge.     

Chromosome fragility and susceptibility of Bloom's syndrome fibroblasts to SV40 transformation

Summary A comparison of the frequencies of chromosomal aberrations and the rates of SV40 transformation was made using fibroblasts obtained from 2 patients with Bloom's syndrome (BS) and from a normal individual. BS cells were found to be more susceptible to chromosome damage, in confirmation of earlier reports, but surprisingly, BS cells were distinctly less prone to transformation.Supported in part by the Michael J. Connell Foundation Medical Genetics Fund, and Health, Education and Welfare, MCH project 422.     

Developmental genetics

Of particular concern to the human geneticist are the effects of genetic abnormalities on development. To gain an understanding of these effects it is necessary to engage in a reciprocal process of using knowledge of normal developmental events to elucidate the mechanisms operative in abnormal situations and then of using what is learned about these abnormal situations to expand our understanding of the normal. True developmental genes have not been described in man, although it is likely that they exist, but many developmental abnormalities are ascribable to mutations in genes coding for enzymes and structural proteins. Some of these even produce multiple malformation syndromes with dysmorphic features. These situations provide a precedent for asserting that not only monogenic developmental abnormalities, but also abnormalities resulting from chromosome imbalance must ultimately be explicable in molecular terms. However, the major problem confronted by the investigator interested in the pathogenesis of any of the chromosome anomaly syndromes is to understand how the presence of an extra set of normal genes or the loss of one of two sets of genes has an adverse effect on development. Several molecular mechanisms for which limited precedents exist may be considered on theoretical grounds. Because of the difficulties in studying developmental disorders in man, a variety of experimental systems have been employed. Particularly useful has been the mouse, which provides models for both monogenic and aneuploidy produced abnormalities of development. An example of the former is the mutation oligosyndactylism which in the heterozygous state causes oligosyndactyly and in the homozygous state causes early embryonic mitotic arrest. All whole arm trisomies and monosomies of the mouse can be produced experimentally, and of special interest is mouse trisomy 16 which has been developed as an animal model of human trisomy 21 (Down syndrome). In the long run, the most direct approach to elucidating the genetic problems of human development will involve not only the study of man himself but also of the appropriate experimental models in other species.     

Activation of complement by trypanosomes

Summary Factors exhibiting anti-complementary activity released from trypanosomes after incubation at 20°C were described. The active material was shown to consume the first component of bovine complement. While the anticomplementary factor(s) from T. lewisi could activate bovine, human and guinea pig complement, the factor(s) from T. congolense was observed to activate bovine complement, but not guinea pig and only slightly human complement. The roles of complement activating factor(s) of trypanosomes in the pathology of the disease are discussed.This project is supported by National Research Council of Canada grant A 0068 and a grant from the International Development Research Centre.     

Molecular cloning of a cDNA encoding alpha-glucosidase in the digestive gland of the shrimp, Litopenaeus vannamei

The complete sequence of the 3-kb cDNA and the 5' genomic structure are reported for the gene encoding the shrimp alpha-glucosidase. Alpha-glucosidase cDNA was isolated from a shrimp digestive gland cDNA library. The 2830-base pair cDNA contains an open reading frame that encodes 919 amino acids. The shrimp alpha-glucosidase cDNA shows a high level of identity with that of the human sucrase-isomaltase, human maltase-glucoamylase, and human acid lysosomal alpha-glucosidase, indicating that the protein shares the same structural domains. The similarities among these proteins are found as clusters and characterize the glycosyl hydrolase family 31. To our knowledge, this is the first report to describe a satellite sequence in the 5' genomic structure before the TATA box in an invertebrate sequence.     

Late Feyerabend on materialism,mysticism, and religion

Feyerabend's interests in religion and mysticism grew through his career. In his later writings, Feyerabend's numerous critiques of scientific materialism are often accompanied by purported advantages of religious orientations and temperaments. These recommendations do not simply follow from his tolerant theoretical pluralism; they are more positive attempts to articulate distinctive aspects of human life satisfied by religion, but not by scientific materialism. Elevating the human need for mystery, reverence, and love, he contrasts these goods with the deliverances of monistic conceptions of science and reason. I bring attention to some of the common themes in these remarks to argue that they were integral with other parts of his philosophical project and that they could serve as helpful rejoinders to contemporary exhortations to science-based secularism from philosophers of science.     

Developmental genetics

Summary Of particular concern to the human geneticist are the effects of genetic abnormalities on development. To gain an understanding of these effects it is necessary to engage in a reciprocal process of using knowledge of normal developmental events to elucidate the mechanisms operative in abnormal situations and then of using what is learned about these abnormal situations to expand our understanding of the normal. True developmental genes have not been described in man, although it is likely that they exist, but many developmental abnormalities are ascribable to mutations in genes coding for enzymes and structural proteins. Some of these even produce multiple malformation syndromes with dysmorphic features. These situations provide a precedent for asserting that not only monogenic developmental abnormalities, but also abnormalities resulting from chromosome imbalance must ultimately be explicable in molecular terms. However, the major problem confronted by the investigator interested in the pathogenesis of any of the chromosome anomaly syndromes is to understand how the presence of an extra set of normal genes or the loss of one of two sets of genes has an adverse effect on development. Several molecular mechanisms for which limited precedents exist may be considered on theoretical grounds. Because of the difficulties in studying developmental disorders in man, a variety of experimental systems have been employed. Particularly useful has been the mouse, which provides models for both monogenic and aneuploidy produced abnormalities of development. An example of the former is the mutation oligosyndactylism which in the heterozygous state causes oligosyndactyly and in the homozygous state causes early embryonic mitotic arrest. All whole arm trisomies and monosomies of the mouse can be produced experimentally, and of special interest is mouse trisomy 16 which has been developed as an animal model of human trisomy 21 (Down syndrome). In the long run, the most direct approach to elucidating the genetic problems of human development will involve not only the study of man himself but also of the appropriate experimental models in other species.Acknowledgments. This review was written while the author was a Henry J. Kaiser Senior Fellow at the Center for Advanced Study in the Behavioral Sciences, Palo Alto, California. This work was supported by grants from the National Institutes of Health (GM-24309, HD-03132, HD-15583, HD-17001) and the American Cancer Society (CD-119) and by a contract from the National Institute of Child Health and Human Development (NOI-HD-2858).