通过联合分析孤独症遗传资源交流数据库和芬兰家庭以寻找孤独症的基因位点

来源 :世界核心医学期刊文摘(神经病学分册) | 被引量 : 0次 | 上传用户:jonathanwu
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Objective: Several genome-wide screens have been performed in autism spectrum disorders resulting in the identification of numerous putative susceptibility loci. Analyses of pooled primary data should result in an increased sample size and the different study samples have a potential to strengthen the evidence for some earlier identified loci, reveal novel loci, and even to provide information of the general significance of the locus. The objective of this study was to search for potential susceptibility loci for autism, which are supported by two independent samples. Methods: We performed a combined analysis of the primary genome scan data of the Autism Genetic Resource Exchange (AGRE)and Finnish autism samples to reveal susceptibility loci potentially shared by these study samples. Results: In the initial combined data analysis, the best loci (p < 0.05) were observed at 1p12- q25, 3p24- 26, 4q21- 31, 5p15- q12, 6q14- 21, 7q33- 36, 8q22- 24, 17p12q21, and 19p13- q13. The combined analysis of Finnish and AGRE families showed the most promising shared locus on 3p24- 26 with nonparametric logarithm of odds (NPL) score of 2.20 (p = 0.011). The combined data analysis did not provide increased linkage evidence for the earlier identified loci on 3q25- 27 or 17p12- q21. However, the 17pl2- q21 locus remained promising also in the combined sample (NPLall = 2.38, p = 0.0076). Interpretation: Our study of 314 autism families highlights the importance of further analyses on 3p24- 26 locus involving comprehensive molecular genetic analyses of oxytocin receptor gene (OXTR), a positional and functional candidate gene for autism. Objective: Several genome-wide screens have been performed in autism spectrum disorders resulting in the identification of numerous putative susceptibility loci. Analyzes of pooled primary data should result in an increased sample size and the different study samples have a potential to strengthen the evidence for some had identified loci, reveal novel loci, and even to provide information of the general significance of the locus. The objective of this study was to search for potential susceptibility loci for autism, which are supported by two independent samples. Methods: We performed a combined analysis of the primary genome scan data of the Autism Genetic Resource Exchange (AGRE) and Finnish autism samples to reveal susceptibility loci potentially shared by these study samples. Results: In the initial combined data analysis, the best loci (p <0.05) were observed at 1p12- q25, 3p24-26, 4q21-31, 5p15- q12, 6q14-21, 7q33-36, 8q22-24, 17p12q21, and 19p13- q13. The combined anal ysis of Finnish and AGRE families showed the most promising shared locus on 3p24-26 with nonparametric logarithm of odds (NPL) score of 2.20 (p = 0.011). The combined data analysis did not provide increased linkage evidence for the earlier identified loci on 3q25 - 27 or 17p12- q21. However, the 17pl2- q21 locus remained promising also in the combined sample (NPLall = 2.38, p = 0.0076). Interpretation: Our study of 314 autism families highlights the importance of further analyzes on 3p24-26 locus involving comprehensive molecular genetic analyzes of oxytocin receptor gene (OXTR), a positional and functional candidate gene for autism.
其他文献
本文对高中概率与统计的现状进行分析研究,了解高中概率与统计的教学内容及近几年高考的考核情况,提出概率与统计教学应根据现状创新教学模式,提高课堂教学实效性。 This pa
Onee an Elephant met a Monkey and said,“Look, how big and strong I am!I can break a tree,and can you break a tree,too?”
《英语课程标准》明确指出“教师应依据课程的总体目标并结合教学内容,创造性地设计贴近学生实际的教学活动,吸引和组织他们积极参与。”因此,要将学生的英语学习引向家 The
伊斯曼-柯达公司介绍了一种感红的负片和纸。这种材料可在照相排版设备和调制的扫描装置中曝光。所用的光源为氦-氖激光或其他的红光源。柯达HN激光胶片 Eastman Kodak int
“模拟电子技术”是一门通用性很强的技术基础课程。它不但是电类专业的必修课,而且也是不少非电专业的必修课。以往这门课的教学时数都在100学时以上。随着科学技术的发展
工控机的键盘布置随控制对象不同而变化,标准PC键盘布局难以满足要求。在分析标准键盘扫描、通讯原理基础上,用单片机8751设计出一通用的键盘控制器,编制了相应的程序,实现了与标
从钙镁磷肥含有多种作物所需的中、微量元素论述其作用、与三元复合(混)肥在配合施用中存在的互补作用;从钙镁磷肥的自身发展,说明钙镁磷肥在肥料中占有的位置 From the calcium
以开发新风机组温度测控系统为例,介绍了用VB和FC51开发的IBMPC微机与单片机间进行通信的具体实现技术,讨论了采用高级语言实现测控系统通信的软硬件、通信协议等。 Taking the temperatu
请下载后查看,本文暂不支持在线获取查看简介。 Please download to view, this article does not support online access to view profile.
本文叙述了目前在研制功率GaAs FET过程中对器件的输出功率有比较重要影响的诸多因素,例如器件的几何结构、源引线寄生电感、热阻、击穿电压等等,以及对这些因素加以克服或限