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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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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   
3.
The eye-tracking method was used to assess the influence of detailed, colorful illustrations on reading behaviors and learning outcomes. Based on participants’ subjective ratings in a pre-study, we selected eight one-page human anatomy lessons. In the main study, participants learned these eight human anatomy lessons; four were accompanied by detailed illustrations, and the other four were accompanied by simplified illustrations. Participants completed a comprehension test and an evaluation questionnaire after reading each lesson. The results showed that detailed and simplified illustrations were equally effective in terms of learning outcomes. Eye-tracking data indicated that the detailed illustrations attracted attention in the initial learning stage and received more visual attention during the overall learning process. Notably, correlation analysis revealed that spending a greater proportion of time re-inspecting the simplified illustration was associated with higher test performances. By contrast, greater proportion of time spent re-inspecting the detailed illustration was not significantly correlated with learning outcomes. The results suggest that detailed illustrations could influence the learning process, and may support learning differently compared with simplified illustrations.  相似文献   
4.
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   
5.
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   
6.
While Honduras's post-1990s enrolment status has improved, no reports examine changes in status. We examined changes in enrolment patterns by analysing 1689 children's data using the true cohort method. We also analysed educational-development strategies/policies and project documentation. Grade-failure numbers did not improve over time because more children attended school, and no clear influence of strategies/policies and projects on educational quality was observed. Enrolment patterns were divided into graduation pattern with once-or-none repetition, and into dropout pattern after one-or-two years’ attendance. However, the more recent the school entrance year, the more often students continued attendance until graduation. Policy implications of these are discussed.  相似文献   
7.
This study hypothesized that repeating a grade is one reason why Honduran primary students drop out of school but not the main reason. Using longitudinal data, we analyzed student enrollment patterns up until students left school. The results revealed that many students dropped out suddenly without having previously repeated a grade, although many dropouts had also repeated a grade at some point, and repeating a grade experience was not among the most frequently appearing dropout patterns in any of the completed grades. The findings indicated that low expectations of education and the need to enter the labor market were causes of immediate dropout.  相似文献   
8.
Internet of Things (IoT) is ubiquitous in society. IoT-enabled dynamic capabilities in real-time sensing and responding can spur digital transformation in unlocking the potential of digital government into data-driven smart government capable of delivering policies and services of public interest and public value. However, the literature indicates challenges in IoT cybersecurity and systemic use across the government. There is the urgent need for IoT research on policy and use. This paper developed a framework for IoT-enabled smart government performance. We applied this framework to conduct case study analyses of digital technology policy, IoT cybersecurity policy, and IoT use in major application domains at the U.S. federal government level. The results show that some agencies were strategic and forward-thinking in funding and partnering with sub-national governments in promoting the IoT use. However, there remains a critical need for national IoT policies to promote systemic IoT use across the application domains.  相似文献   
9.
In this article the authors describe pedagogy which rests on commitments to solidarity, activism, and intersectional understandings of personhood and social (in)justices. The authors seek to create accessible classrooms where our many selves and critical consciousness can be in (dis)comforting conversation with one another. Then, they hope to bring activism to the streets.  相似文献   
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