The research of the DNA tip for Autism to analyze the genetic basis

自闭症DNA尖端研究分析遗传基础

• 批准号: 12670752
• 负责人: NANBA Eiji
• 金额: $ 2.18万
• 依托单位: Tottori University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-12670752/
• 关键词: autism; association study; genome imprinting; serotonin receptor gene; 関連遺伝子解析; SNPs; HTR1A

I studied the genetic basis for autism to development of new diagnostic tool using DNA tip.The conclusions in this study are followings.1. The relation of HTR1A gene which is a serotonin related gene to autism was suggested.2. A specific variation of HOX1A gene was detected only in a few patients with autism.3. I developed a method for find the imprinting gene which is important for molecular mechanism of autism.4. Several mutations of the patients with tuberous sclerosis which is related to autistic behavior were detected.5. I developed the method for the association study using single nucleotide polymorphisms and analysis of the gene expression.The following new projects should be necessary.1. I need more DNA samples from Japanese patients with autism.2. I should developed the new method to find the imprinting genes specific for the brain.3. The functional study of the genes related to autism for developed the new therapeutic method.

本研究从自闭症的遗传学基础入手，利用DNA探针技术开发新的诊断工具，主要结论如下：1.结论：1. HTR 1A基因是一个5-羟色胺相关基因，与孤独症的发病有一定的关系. HOX 1A基因仅在少数孤独症患者中存在特异性变异.建立了一种寻找对孤独症分子机制有重要意义的印迹基因的方法.检测结节性硬化症患者与孤独症行为相关的多个突变.我开发了使用单核苷酸多态性和基因表达分析进行关联研究的方法。以下新项目是必要的。我需要更多日本自闭症患者的DNA样本。我应该开发新的方法来寻找大脑特有的印记基因。对孤独症相关基因的功能研究为孤独症的治疗开辟了新的途径。

项目成果

Maegawa S et al.: "Epigenetic silencing of PEG3 gene expression in human glioma cell lines"Mol Carcinog. 31. 1-9 (2001)

Maekawa S 等人：“人神经胶质瘤细胞系中 PEG3 基因表达的表观遗传沉默”Mol Carcinog。

Kotani K et al.: "Allele frequency of human endothelial nitric oxide synthase gene polymorphism in abdominal aortic aneurysm"Int Med. 7. 537-539 (2000)

Kotani K等人：“腹主动脉瘤中人内皮一氧化氮合酶基因多态性的等位基因频率”Int Med。

Maegawa S, Yoshioka H, Itaba N, Kubota N, Nishihara S, Shirayoshi Y, Nanba E, Oshimura M.: "Epigenetic silencing of PEG3 gene expression in human glioma cell lines"Mol Carcinog. 31. 1-9 (2001)

Maekawa S、Yoshioka H、Itaba N、Kubota N、Nishihara S、Shirayoshi Y、Nanba E、Oshimura M.：“人胶质瘤细胞系中 PEG3 基因表达的表观遗传沉默”Mol Carcinog。

Kishimoto T et al.: "Angio tensinogen gene variation and hypertension ina cohort study in Japanese"J Epidemiol. 11・3. 115-119 (2001)

Kishimoto T 等：“日本队列研究中的血管紧张素原基因变异和高血压”J Epidemiol. 115-119 (2001)。

Ikebuchi M: "The Arg1075 His substitution in the FBN1 gene is clinically innocent for Marfan syndrome."Hum Mut. 15. 298-298 (2000)

Ikebuchi M：“FBN1 基因中的 Arg1075 His 替换对于马凡综合征在临床上是无害的。”嗯嗯。