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

研究自闭症的遗传基础，开发新的DNA末端标记诊断工具。本研究的结论如下。结论：1.提出了5-羟色胺相关基因HTR1A与孤独症的关系。仅在少数自闭症患者中检测到HOX1A基因的特异性变异。建立了一种寻找自闭症分子机制中重要的印记基因的方法。检测到与自闭症行为相关的结节性硬化症患者的多个突变。我开发了使用单核苷酸多态和基因表达分析进行关联研究的方法。我需要更多来自日本自闭症患者的DNA样本。我应该开发一种新的方法来寻找大脑特有的印记基因。自闭症相关基因的功能研究为自闭症的治疗开辟了新的途径。

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.