Trinucleotide repeats and neuropsychiatric disorders

Expansions of trinucleotide repeats at the level of genomic DNA are increasingly recognized as a cause of a number of neuropsychiatric disorders. Triplet repeat disorders are commonly classified into two groups, those with moderate CAG expansions that result in a polyglutamine stretch in the gene products and those with very long expansions, usually non-CAG, that are not translated. The triplet repeat intergeneration and intra-generational instability, and genetic anticipation characterize disorders. Most of the diseases caused by expanded CAG repeat share common features, which include neurodegeneration, a dominant pattern of inheritance and widespread expression of the gene products with neuronal loss restricted to distinct subset of neurons. Neurodegenerative changes associated of CAG expansion disorders is explained in terms of intra and extra cellular aggregation of mutant gene products, the insoluble nature of the protein(s) being attributed to the presence of polyglutamine stretches, hence their neurotoxic effects. methods based on poymerase chain reaction have become handy in the diagnosis of these genetic disorders. Progress in transgenic animal models for these disorders will be critical for understanding the progress of these disorders and for testing new therapeutic strategies.     

基于GIS的南四湖湿地生态脆弱性评价

湿地是重要的生物栖息地、水源涵养源和生态保护屏障,也是人类重要的环境资源之一。南四湖作为山东省最大的淡水湖,由于人类的开发与干扰,面临着巨大的生态环境压力。自2003年建立自然保护区以后,南四湖湿地受到了一定的保护,但湿地的生态系统仍旧十分脆弱。本文通过解译高精度遥感影像,利用GIS技术,通过模型对南四湖湿地地区建立湿地生态系统脆弱性评价指标体系,最后运用EVI(Ecological Vulnerability Index)值进行分析、评价。评价的结果表明:①南四湖湿地大部分地区都受到人类干扰,自然湿地受到干扰最大,大部分转化为人工湿地,其中沼泽湿地面积减少占自然湿地面积减少的99.95%;②南四湖湿地系统中29.5%的地区处于四级重度脆弱地区,50.2%的地区属于三级即中度脆弱区,仅10.1%处于二级轻度脆弱区;③半自然半人工湿地地区抗干扰程度较强,水稻田、沼泽湿地抗干扰程度较弱。从量化角度看南四湖湿地生态环境状况不容乐观。     

Visualizing carrier status: fragile X syndrome and genetic diagnosis since the 1940s

What does it look like to be the carrier of a genetic disease? Carrier status may be determined through the visual analysis of both genotypic and phenotypic evidence. Over the past 70 years, clinical geneticists have depended upon multiple strategies for identifying disease carriers within a family. This has included pedigree analysis, which was based upon clinical observations of individual family members and, in recent decades, cytogenetic and molecular methods. Newer techniques have offered novel opportunities to actually see the suspected etiological markers of certain genetic diseases, such as Fragile X syndrome. The visualization of these markers has both clarified and confused previously observed inheritance patterns, in some cases leading to the development of newly distinct diagnostic categories. As a result, what it means to be affected by, or the carrier of, a genetic disease has continuously evolved.     

微生态制剂治疗肝性脑病的研究进展

肝性脑病（hepatic encephalopathy,HE）是由急、慢性肝功能衰竭或各种门-体分流（porto-systemic venous shunting,PSS）引起的以代谢紊乱为基础的、并排除了其它已知脑病的中枢神经系统失调综合征。常以神经精神症状,如性格改变、行为异常、智力减退等为突出表现,发病机制复杂,但经过合理、及时治疗后,该综合征具有潜在的可逆性。如何选择合理有效的药物预防和防止肝性脑病复发,逆转患者的精神神经系统失调已经成为目前研究热点。笔者针对目前微生态制剂药物组成、作用机制、临床疗效及其对治疗肝性脑病的研究进展做一综述。     

后基因组时代的营养学研究

人类基因组测序工作的完成以及基因组技术 (包括转录组学、蛋白质组学和代谢组学等 )在健康研究上的应用将为 2 1世纪的营养学研究提供新的手段和机遇。用“营养基因组学”可概括未来的营养科学研究。营养基因组学是研究营养素和植物化学物质在人体中的分子生物学过程以及所产生的效应 ,它强调对个体的作用。基因组学技术可以帮助确认一些与疾病发生有关的基因 ,从而建立个人食谱 ,使人们的健康状况通过调整饮食来达到最佳     

焉耆盆地库鲁克绿洲扩展时空格局动态分析

绿洲是西部干旱区人类生存发展的基础,绿洲的形成、发展和演变一直是干旱区生态与地理研究的核心内容.本研究以位于新疆焉耆盆地库鲁克塔格山北麓、博斯腾湖南畔的库鲁克绿洲为案例,利用4期1973年～2005年期间的遥感影像数据,在斑块水平和景观水平上完整回溯了库鲁克绿洲早期形成、发展和演变的时空格局动态过程.通过空间分析表明,库鲁克绿洲发展演变过程和格局呈现出景观镶嵌斑块的"散布、扩展和融合"循环往复的节律性动态过程特征,不同斑块的规模由子斑块扩散速率、边缘扩展、斑块边界接触和融合过程决定.斑块镶嵌格局的时空节律变化导致了聚集斑块的等级镶嵌结构和动态格局.研究结果可为今后干旱区绿洲形成、发展和演变过程的时空动态预测模拟、管理规划与环境保护等提供了基本理论依据.     

基于SMTP组件使用CDO.Message进行工资条批量发送的实现

使用CDO.Message＋SMTP编写一个邮件发送器,专门应用到人力资源部给每位员工发送工资条。替代传统手动一封一封地进行邮件发送的重复劳动,避免了因为误操作导致的工资泄密的可能。     

中国沿海不透水地表变化特征分析

海岸带是当前经济发展的前沿地带,由于其便利的交通环境使得人类对该区域的利用程度逐渐增强。同时海岸带地区也是生态系统较为脆弱的地区,是生态系统的交错区和过渡带,长期的过度开发与利用势必会导致该区域生态环境的恶化。本文以遥感获取的区域不透水地表分布数据为基础,对研究区内不透水地表面积与区域经济社会发展的关键指标进行了相关分析,通过分析海岸带10km缓冲区内不透水地表扩展与生态用地之间的占补关系发现：①2000-2008年,中国海岸带不透水地表面积持续增加,与经济和人口要素呈正相关关系。总体来看,相比人口密度,沿海各县GDP密度与区域地表不透水率具有更好的相关性。9年间,沿海地区GDP密度明显提升,沿海各县平均增加了2986.8万元/km²。人口密度平均增加了181人/km²;②从2000-2008年,中国海岸带不透水地表的扩展包括新增不透水地表和不透水率增加。新增不透水地表主要以占用耕地和生态用地为主。不透水地表的扩展受到当地自然地理特征的制约,例如地形、海拔、坡度等因素;③本研究选取的七个典型区海岸带不透水地表扩展均以占用耕地为主,但在不同缓冲区范围内,不透水地表占用耕地和生态用地强度表现出明显的区域差异特点。南部的三个典型区（北部湾、海峡西岸、珠三角）海岸带不透水地表的扩展占用生态用地强度高于北部三个典型区（京津唐、辽东湾及辽东半岛、山东半岛）,这主要由于这些区域生态用地面积比例较高而引起。在未来的海岸带保护与开发规划中,应综合考虑生态本底的区域差异,进而寻求更合理的生态用地、耕地和建设用地比例。     

NK淋巴细胞瘤的染色体畸变分析研究

分析了自然镣伤淋巴细胞瘤（NK淋巴细胞瘤）的染色体畸变特征，采用传统的细胞遗传学和原位杂交技术相结合，检测了10例NK淋巴细胞瘤的淋巴结内瘤细胞，细胞遗传学结果发现NK淋巴瘤常见的染色体畸变有del(6q）、－7、＋X及del(lq）等，而原位杂交发现7号、X染色体超二倍体和6号染色体低二倍体发生率较高，分别为60．0％、50．0％和40．0％。由此可见，NK淋巴瘤的发生发展与染色体畸变有关，进一步寻找这些染色体上的相关基因有助于阐明NK淋巴瘤的发生机制。     

“大豆优异基因资源发掘及其基因组研究” 立项背景和意义

大豆是重要的粮食和油料作物,在我国国民经济发展中具有重要地位 。在中国加入WTO的形势下,我国大豆面临着生产落后、供给严重不足、国内大豆产业受到 进口转基因大豆的严重冲击的局面。我国是大豆的起源中心,收集保存的大豆资源蕴藏着丰\\r 富的有益基因。开展大豆优异基因资源发掘、大豆基因组序列测定与生物信息学分析、大豆 优异基因的分子标记、定位与克隆等关键科学问题研究,将推动大豆的分子生物学研究并提\\r 高大豆的分子育种水平,为大豆遗传改良奠定坚实的理论基础。针对这些内容,2003年国家 自然科学基金委员会设立了重大项目“大豆优异基因资源发掘及其基因组研究”。     

Genomic designation: how genetics can delineate new, phenotypically diffuse medical categories

This paper reports and discusses 'genomic designation' as a way of classifying people. In genomic designation the object of biomedical analysis--and the concomitant medical category that is subject to scientific, clinical, and social action--is delineated on a genomic basis, while the phenotype is decentralized and tabulated post factum. Unlike prominent sociological concepts such as biosociality or geneticization, where genetic proclivities for or explanations of phenotypic categories affect social processes, genomic designation treats characteristics of the genome as the essential referent of new categories of illness. I outline the relevant sociological literature and the shift to what Nikolas Rose has called the 'molecular gaze' before explicating the concept ofgenomic designation and its half-century history. I use 22q13 Deletion/Phelan-McDermid syndrome as an example of genomic designation: investigations into the deletion of genetic material at site q13 on the 22nd chromosome preceded and made practicable the delineation of a syndrome more than a decade later, even though the associated phenotype is not distinct enough for diagnosis. Finally, I discuss the implications of this turn to 'rigidly designate' kinds of people according to observations made at the level of the genome and outline directions for future research.     

DNA分子标记技术在水生动物遗传多样性研究中的应用

简要阐述了几种常见DNA分子标记技术,如限制性片断长度多态性(restriction fragment length polymorphism,RFLP)、随机扩增多态性DNA(random amplified polymorphie DNA,RAPD)、扩增片断长度多态性(amplified fragment length polymorphism,AFLP)、简单重复序列或微卫星标记(simpie sequencerepeat,SSR)、内部简单重复序列(inter-simple sequence repeat,ISSR)和单核苷酸多态性(single nucleotidepelymorphisms,SNP)等的基本原理、技术上的优缺点及其在水生动物遗传多样性研究中的应用,包括遗传多样性的鉴定、品种亲缘关系与分类的研究和种质资源的鉴定等.最后,对DNA分子标记技术在水生动物遗传多样性应用中的存在问题进行了简单的讨论.     

Gene editing in plants: progress and challenges

The clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein 9 (Cas9) genome editing system is a powerful tool for targeted gene modifications in a wide range of species, including plants. Over the last few years, this system has revolutionized the way scientists perform genetic studies and crop breeding, due to its simplicity, flexibility, consistency and high efficiency. Considerable progress has been made in optimizing CRISPR/Cas9 systems in plants, particularly for targeted gene mutagenesis. However, there are still a number of important challenges ahead, including methods for the efficient delivery of CRISPR and other editing tools to most plants, and more effective strategies for sequence knock-ins and replacements. We provide our viewpoint on the goals, potential concerns and future challenges for the development and application of plant genome editing tools.     

高校扩招对区域创新能力的影响：机制与实证

本文基于省级面板数据运用准倍差法实证检验了高校扩招政策对创新能力的影响。本文结论表明,在控制其他因素之后,扩招后教育数量扩张提高了创新能力44.22%,教育质量变化提升了创新能力1.12%。教育数量与教育质量之间存在交互影响,且教育质量提高促进创新的边际效应较教育数量大。机制验证表明,人力资本提升是扩招（教育数量和教育质量）促进创新的主要途径,且教育质量提升人力资本的作用较教育数量作用大。本文从创新角度评估高校扩招政策的影响,为进一步推进高校扩招政策,提升人力资本提供了直接政策指导。     

基于EBA方法的R&D投资影响因素稳健性研究——基于中国省际数据分析

从省际层面上对R&D投资的决定因素进行实证研究,主要关注通过外商直接投资(FDI)实现的国际技术转移、专利保护强度、经济增长以及人力资本积累和科学研究人员数量。通过极值边界分析(EBA)方法检验这些因素的稳健性和灵敏度。结果表明:高等教育和科研人员比例是对R&D强度具有积极影响的稳健决定因素,通过外商直接投资实现的外国技术流入和收入增长率对R&D投资无显著影响,专利保护强度对决定R&D投资具有稳健的积极影响。     

Rose without prickle: genomic insights linked to moisture adaptation

Prickles act against herbivores, pathogens or mechanical injury, while also preventing water loss. However, whether prickles have new function and the molecular genetics of prickle patterning remain poorly explored. Here, we generated a high-quality reference genome assembly for ‘Basye''s Thornless’ (BT), a prickle-free cultivar of Rosa wichuraiana, to identify genetic elements related to stem prickle development. The BT genome harbors a high level of sequence diversity in itself and with cultivar ‘Old Blush’ (R. chinensis), a founder genotype in rose domestication. Inheritance of stem prickle density was determined and two QTL were identified. Differentially expressed genes in QTL were involved in water-related functions, suggesting that prickle density may hitchhike with adaptations to moist environments. While the prickle-related gene-regulatory-network (GRN) was highly conserved, the expression variation of key candidate genes was associated with prickle density. Our study provides fundamental resources and insights for genome evolution in the Rosaceae. Ongoing efforts on identification of the molecular bases for key rose traits may lead to improvements for horticultural markets.     

Association of Prooxidant–Antioxidant Balance with Clinical and Laboratory Parameters and Its Relation to Different Drug Regimens in Polycystic Ovary Syndrome Women with Normal BMI

Polycystic ovarian syndrome is one of the most common hormonally leading cause infertility disorders. The effect of oxidant-antioxidant imbalance on disease progression has been studied in many disorders. The present study was aimed to evaluate prooxidant–antioxidant balance (PAB) in patients with polycystic ovarian syndrome compared to healthy subjects. We also studied the possible effect of treatment with available drugs on serum PAB. In this case–control study 100 polycystic ovary syndrome (PCOS) patients and 100 healthy individuals were enrolled in the study. The laboratory features of patients and controls like as serum LH and FSH concentration and hematological examinations were collected. PAB was evaluated by a colorimetric method. Serum PAB value was significantly higher before treatment compared to after treatment and healthy subjects. PAB values were also higher in subjects with irregular menstrual cycle compared to normal subjects. Our results represented that serum PAB values has an indirect significant correlation with serum LH concentration. We also found that drugs regimen containing spironolactone effectively reduced the serum PAB values. Our results showed that PCOS patients had increased level of PAB and treatment with spironolactone mainly decreases the level of serum PAB. Our results indicate that the measurements of PAB may be used as a potential laboratory marker for assessment of PCOS patients.     

Uric acid as one of the important factors in multifactorial disorders--facts and controversies

With considering serum concentration of the uric acid in humans we are observing hyperuricemia and possible gout development. Many epidemiological studies have shown the relationship between the uric acid and different disorders such are obesity, metabolic syndrome, hypertension and coronary artery disease. Clinicians and investigators recognized serum uric acid concentration as very important diagnostic and prognostic factor of many multifactorial disorders. This review presented few clinical conditions which are not directly related to uric acid, but the concentrations of uric acid might have a great impact in observing, monitoring, prognosis and therapy of such disorders. Uric acid is recognized as a marker of oxidative stress. Production of the uric acid includes enzyme xanthine oxidase which is involved in producing of radical-oxigen species (ROS). As by-products ROS have a significant role in the increased vascular oxidative stress and might be involved in atherogenesis. Uric acid may inhibit endothelial function by inhibition of nitric oxide-function under conditions of oxidative stress. Down regulation of nitric oxide and induction of endothelial dysfunction might also be involved in pathogenesis of hypertension. The most important and well evidenced is possible predictive role of uric acid in predicting short-term outcome (mortality) in acute myocardial infarction (AMI) patients and stroke. Nephrolithiasis of uric acid origin is significantly more common among patients with the metabolic syndrome and obesity. On contrary to this, uric acid also acts is an "antioxidant", a free radical scavenger and a chelator of transitional metal ions which are converted to poorly reactive forms.     

虚拟生存视野下大学生生存状态探析

虚拟生存环境下,人类的生活方式发生了翻天覆地的变化,虚拟生存在给大学生活带来便捷的同时,也深刻地改变了大学生的生存世界,造成大学生生活原子化,大学生的生活方式、人际关系、价值观也严重异化。在虚拟世界里,大学生生活原子化导致主体性缺失、人际关系脆弱,价值观出现偏差。