抽动秽语综合征（TS）是一种在儿童期发病的多基因遗传的神经精神障碍性疾病。研究显示多种染色体畸变可能与TS发病相关，其重组断裂点区域的候选基因为定位TS不同表型的易感基因提供了线索。本研究在前期收集到300余例TS的核心家系及150例散发TS患者的基础上，拟建立中国首个TS遗传资源库。对前期发现的携带国际首报的染色体平衡易位核型46,XY,t(1;5)(1q43;5q21)的遗传性TS患者，利用MiSeq二代测序平台筛选与鉴定染色体断裂点区域的候选基因，以发现TS的易感基因。依托TS遗传数据库，采用基于散发样本的病例对照研究与基于核心家系的传递不平衡分析相结合的方法,应用飞行质谱技术进行基因分型扩大验证实验，最终确定被克隆的基因对TS的遗传易感性。通过体外功能实验初步探讨该易感基因的致病机理。本研究将进一步揭示TS发病的分子机制，为开发TS早期预警模型和干预策略及个体化医疗防治方案奠定基础

Tourette syndrome ( TS ) is a polygenic childhood-onset neuropsychiatric disorders. Research showed that various chromosomal aberrations are associated with TS, and genes of the recombination breakpoint regions provide clues for localization of different phenotypic susceptibility genes of TS. This study proposed the establishment of Chinese first TS genetic resources on the basis of more than 300 nuclear families of TS and 150 sporadic TS collected earlier. Based on the early discovery of the first report to carry a balanced chromosomal translocation karyotype 46, XY, t ( 1; 5 ) ( 1q43; 5q21 ) of TS patients, we will clone and identify the candidate gene on chromosome breakpoint region, which may be susceptibility gene of TS, by using MiSeq platform of the two generation sequencing of the gene.With the help of Miseq Ⅱsequencing platform, we plan to screen and evaluate the canadiate genes on the chromosome breakpoint region of the TS patients carried a karyotype 46,XY, t ( 1; 5 ) ( 1q43; 5q21 ), which was first repotted balanced chromosomal translation karyotype, to discovery the candidate and susceptible genes of TS. On the basis of the TS genetic database, we combine the case-control study of sporadic case combining the analysis method of the Transmission Disequilibrium Test of trios, and increase the valiability by Sequenom Massarray to determine its genetic susceptibility to TS. Through in vitro functional test to explore the pathogenic mechanism, our study will elucidate the molecular mechanisms of TS, and make the foundation for the development of early warning model and intervention strategies and individual medical prevention scheme of TS.