ZNF533、DOCK4和IMMP2L基因多态性与中国东北汉族孤独症的关联研究(英文)

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。     

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population简

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.     

Implementing web 2.0 tools in the classroom: Four teachers’ accounts

In this paper, four teachers shared their experiences using the following free Web 2.0 tools with their students: Jing, Wix, Google Sites, and Blogger. The teachers found that students reacted positively to lessons in which these tools were used, and also noted improvements they could make when using them in the future.     

知识考古与历史重诂:编撰《林纾年谱长编》的构想

论述编撰《林纾年谱长编》的总体构想。课题尝试运用现代史学方法对近代闽籍历史名人林纾进行知识考古和重诂,涉及谱主一生四个不同特质的时期。介绍这项课题的选题背景、动机和主要任务,同时提出年谱编撰方法方面的新观点。研究的目的是以新的历史观重构特定时期的历史人物。     

Reinhard Werth: Legasthenie und andere Lesestörungen. Wie man sie erkennt und behandelt

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