核心家系孤独症患儿FOXP1基因的突变及CNV分析  

Mutation and copy number variation analyses of FOXP1 gene in autistic children of nuclear family

作　　者：杨曹骅[1] 杜亚松[1] 刘文文[1] 张林娜 王红艳[2] 公晓红[2] 

机构地区：[1]上海交通大学医学院附属精神卫生中心,上海200030 [2]复旦大学生命科学学院,上海200433

出　　处：《中国儿童保健杂志》2013年第6期567-570,共4页Chinese Journal of Child Health Care

基　　金：国家重点基础研究发展计划(973)(2010CB529602);上海市科委重点项目(11411952401);上海市新三年计划项目(GWIII-32);上海市家庭文明建设重点立项课题(2012)

摘　　要：【目的】研究转录因子FOXP1在汉族孤独症患儿核心家系中的外显子突变,并进行初步的功能预测。【方法】288例孤独症患儿及生物学父母进行FOXP1外显子区域基因测序和拷贝数变异(copy number variation,CNV)检测;使用POLYPHEN及SIFT等软件进行功能预测。【结果】4例患儿的FOXP1基因外显子区域发现4个错义突变,包括P42S,H53Q,L68R和M590V。在CNV检测中为阴性结果。通过功能预测发现,FOXP1的四个罕见突变可能不会对FOXP1编码蛋白产生重要影响。【结论】汉族人群中,FOXP1基因可能不是孤独症的主要致病基因。[Objective] To study the transcription factor FOXP1 exon in the Han Chinese children with autism nucle- ar families,and finish the initial function prediction. [Methods] The gene sequencing in FOXP1 exon regions of 288 cases of children with autism and their biological parents were conducted to detect the copy number variation （CNV） of FOXP1. The POLYPHEN and SIFT software were used to do the function prediction. [Results] In 4 patients,four missense mu- tations were found in FOXP1 exon region,P42S, H53Q,L68R,and M590V. And there were the negative results in the detec- tion of copy number variation. After the function prediction, the four rare mutations might not have an important impact on the protein. [Conclusion] In the Han Chinese population,the FOXP1 gene may not be one of the important autism dis- ease-causing genes.

关 键 词：孤独症 核心家系 FOXP1 基因测序 拷贝数变异 

分 类 号：R749.94[医药卫生—神经病学与精神病学]