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Shuang LIANG Xue-lai WANG Ming-yang ZOU Han WANG Xue ZHOU Cai-hong SUN Wei XIA Li-jie WU Takashi X. FUJISAWA Akemi TOMODA 《Journal of Zhejiang University. Science. B》2014,(3)
研究目的:ZNF533、DOCK4和IMMP2L在大脑发育过程中起到非常重要的作用,是孤独症研究的候选基因。高加索人群的研究结果发现,ZNF533、DOCK4和IMMP2L基因的5个单核苷酸多态性(SNP)位点与孤独症高度相关。为了探讨上述位点是否与中国孤独症发生相关,我们开展了东北汉族孤独症的核心家系研究。创新要点:孤独症候选基因多态位点的研究结果通常很难得到重复。本研究首次在中国东北汉族人群中验证了与高加索人群孤独症密切相关的候选位点。这一结果对孤独症的研究具有重要指导意义。研究方法:利用SNaPshot的方法,检测了中国东北汉族370个核心家系中ZNF533(rs11885327、rs1964081)、DOCK4(rs2217262)和IMMP2L(rs12537269、rs1528039)的分布情况,利用传递不平衡检验(TDT)分析了这些多态位点与孤独症发生的相关性。重要结论:ZNF533和DOCK4基因多态性与中国北方汉族孤独症发生存在显著关联。 相似文献
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Shuang LIANG Xue-lai WANG Ming-yang ZOU Han WANG Xue ZHOU Cai-hong SUN Wei XIA Li-jie WU Takashi X. FUJISAWA Akemi TOMODA 《Journal of Zhejiang University. Science. B》2014,15(3):264-271
Objective
A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population.Methods
We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results.Results
There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: χ 2=4.5200, P=0.0335; rs1964081: χ 2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ 2=5.3430, P=0.0208).Conclusions
Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population. 相似文献4.
Jin Wu Amy J. Chatfield Annie M. Hughes Lynn Kysh Megan Curran Rosenbloom 《Journal of the Medical Library Association》2014,102(2):125-129
Librarians continually integrate new technologies into library services for health sciences students. Recently published data are lacking about student ownership of technological devices, awareness of new technologies, and interest in using devices and technologies to interact with the library. A survey was implemented at seven health sciences libraries to help answer these questions. Results show that librarian assumptions about awareness of technologies are not supported, and student interest in using new technologies to interact with the library varies widely. Collecting this evidence provides useful information for successfully integrating technologies into library services. 相似文献
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The study of aging can bridge divisions between biology, social sciences, and humanities, develop an understanding of causal interrelationships, and help in distinguishing between fact and opinion. An introductory course in gerontology should, therefore, be firmly tied to the liberal arts core of higher education, and not merely provide an assembly line of facts. Why particular problems have been investigated is as worthy of discussion as the findings themselves. The practical implications of research deserve emphasis, but the aim of university education is not to train pressure groups. Undergraduates should be helped to appreciate difficulties in designing and interpreting gerontological studies, as well as to realize that they are not yet ready to undertake independent empirical investigations. The work of the first author is supported by the Canadian National Research Council (APA 89) and the Department of National Health and Welfare. 相似文献
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Professional guidelines state that higher-order thinking skills are a desirable outcome of pharmacy education. In this context, courses in pharmaceutics at the University of Southern California are taught in a learner-centered manner that requires use of chemical reference sources and interpretation of physicochemical information for drug molecules. To facilitate these activities, a librarian worked with faculty to design a class on reference sources and primary literature. Students believed the librarian instruction was beneficial. After the intervention, faculty fielded fewer information-related questions and the librarian received more sophisticated questions. The class emphasizes the importance of collaboration between librarians and faculty in achieving these results. 相似文献
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Amy J. Chatfield Jean L. Siebert Jonathan Koffel 《Medical reference services quarterly》2013,32(2):163-171
PharmGuide <http://goo.gl/f14Me>is an annotated directory of high quality, freely available, online drug information resources intended for use by librarians, pharmacists, and the public. Given the plethora of drug information websites with varying levels of authoritativeness and accuracy, PharmGuide is intended to facilitate the search for resources by providing links to only those sources that have been critically appraised and that meet specific quality criteria. Methods used in developing the site, evidence of its utility based on usage statistics, and examples of its application in practice are presented within the context of the drug information landscape. 相似文献
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Governments aim to mitigate natural hazards' impacts through a disaster early warning system. Drawing on citizen co-production theory and resilient information infrastructures framework, we empirically examined government use of Twitter Tsunami Early Warning Civic Network and citizens' roles in co-providing timely and actionable information. The Indonesian government issued its tsunami early warning Tweet, which was “re-tweeted” without delay by its followers to their own followers to warn tsunami hazards during the 2012 earthquake. Within 15 min it reached over 4 million Twitter users. Based on our case study and social network analysis of Twitter information flows and exchanges within the network, we found that the speed and enormous reach of the government's Twitter tsunami early warnings would be significantly less without citizens' direct participation in re-tweeting, hence influencing greater control of the network. We present evidence for net-savvy citizens' co-production effects on increased government efficiency in providing time-critical public information services. 相似文献
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Akemi Ashida 《Education 3-13》2013,41(5):579-594
Studies have investigated factors that impede enrolment in Honduras. However, they have not analysed individual factors as a whole or identified the relationships among them. This study used longitudinal data for 1971 children who entered primary schools from 1986 to 2000, and employed structural equation modelling to examine the factors themselves as well as the relationships between their components and educational attainment. Findings indicate that reduced educational attainment is not necessarily the result of repetition or dropout. Low educational attainment occurs due to impediments in access to school, absenteeism, or overage, as this leads to a child suddenly leaving school. 相似文献