Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

作     者：Jing Lei~(1,2),Xiong Deng~1,Jie Zhang~3,Linyan Su~4,Hongbo Xu~1,Hui Liang~1,Xian Huang~2,Zhi Song~2,and Hao Deng~(1,2) 1 Center for Experimental Medicine,the Third Xiangya Hospital,Central South University,Changsha,China 2 Department of Neurology,the Third Xiangya Hospital,Central South University.Changsha,China 3 Department of Neurology.Hunan Children’s Hospital,Changsha,China 4 Dapartment of Psychiatry,the Second Xiangya Hospital,Central South University,Changsha,China 

会议名称：《中国的遗传学研究——遗传学进步推动中国西部经济与社会发展——2011年中国遗传学会大会》

会议日期：2011年

学科分类：1002[医学-临床医学] 100205[医学-精神病与精神卫生学] 10[医学] 

基　　金：National Natural Science Foundation of China(30871351) The Scientific Research Foundation for the Returned Overseas Chinese Scholars,State Education Ministry Fund of Hunan Province for Distinguished Young Scholar(09JJ1005) Sheng Hua Scholars Program of Central South University,China: Program for New Century Excellent Talents in University of Ministry of Education of China (NCET-080563) the Graduate degree thesis Innovation Foundation of Central South University(2011ssxt194) 

关 键 词：Tourette Syndrome the HDC gene variant susceptibility 

摘      要：Tourette Syndrome(TS) is a complex neuropsychiatric disorder characterized by vocal and motor *** environmental causes have been proposed to play a role,genetic factors are believed to be the main determinants of the disorder and its clinical ***,A heterozygous GA transition in exon 9 of the histidine decarboxylase gene(HDC) was reported to be associated with TS in a two-generation *** investigate whether the HDC gene play a role in TS in Chinese Han population,we performed genetic analysis of coding region of the HDC gene in 100 Chinese Han patients with *** variants were found including a CT transition (IVS1+52CT),a novel CA transition(c.426CA) in exon 4 and a novel GA transition(c. 1743GA) in exon 12,both predicted with no amino acid *** analysis was conducted in a total of 120 TS patients and 240 sex,age and ethnicity matched healthy controls. No significant differences in genotypic and allele distribution between patients and controls for these three variants(p = 0.274,p =1.000 and p = 0.632 for genotypic distribution,respectively;p = 0.143,p=1.000 and p = 0.734 for allele distribution,respectively) were observed,suggesting variants in the HDC gene may play little or no role in TS susceptibility in Chinese Han population.