云南汉族原发性肌张力障碍患者TOR1A基因突变研究  

The study on TOR1A gene muntation in Dystonia patients in Yunnan Han

作　　者：隆昱洲[1] 雷进[1] 罗丽华[1] 陈婷婷[2] 孙倩倩[2] 褚嘉祐[2] 杨昭庆[2] 孙浩[2] 

机构地区：[1]云南省第二人民医院(昆明医科大学第四附属医院)神经内科,昆明650021 [2]中国医学科学院医学生物学研究所遗传室

出　　处：《中国神经精神疾病杂志》2013年第9期528-533,共6页Chinese Journal of Nervous and Mental Diseases

基　　金：云南省科技厅-昆明医学院联合专项(编号:2011FB230)

摘　　要：目的研究TOR1A基因的904_906delGAG突变(rs80358233)在云南汉族中的分布情况,及此突变与肌张力障碍的相关性是否存在群体特异性。方法对122例来自云南省的汉族肌张力障碍患者及100名50周岁以上正常对照的TOR1A基因第五外显子的编码区和部分3’非翻译区进行测序分析,对比患者及对照的基因碱基组成。结果904_906delGAG突变在云南汉族中肌张力障碍患者中的发生频率为3.2%(4/122)。早发型患者9例,其中1例携带此突变,而迟发型患者携带此突变的频率2.7%(3/113)。并且在患者中发现新突变m.1378TT>TA,可能为miR-494作用的目标序列。对照组未发现904_906delGAG及m.1378TT>TA突变。结论云南汉族群体中可能存在着群体特异性的肌张力障碍遗传突变特征。在云南汉族人群中,904_906delGAG可能为导致迟发型肌张力障碍的遗传病因之一。Objective In order to explore the frequencies of deletion （904_906delGAG, rs80358233） in TORIA and investigated whether the frequencies of this mutation were different among different populations. Methods One hun- dred twenty-two dystonia patients and 100 health Han people aged over 50 were recruited in Yunnan. Sequencing analy- ses of the fifth exon （including all coding sequence and part of 3＇ untralated region） of TORIA gene were performed in all samples. Results The frequency of 904_906delGAG was 3.2 % （4/122） in all tested dystonia patients. The frequency of 904_906delGAG was 0.3 % （I/9） in early-onset patients and 2.7% （3/113） in late onset dystonia patients. The frequency of the mutation in late onset dystonia was higher eompared to previous reports in different populations. Furthermore, a novel mutation （m.1378TT〉TA） on the 3＇UTR of TORIA was indentified, which could be the target site of miR-494. No mutations could be detected in 100 health people. Conclusions population specific mutations for dystonia may exist in Yunnan Han people and the 904_906delGAG is a genetic cause of late onset dystonia in Yunnan.

关 键 词：中国 张力障碍 DNA突变分析 

分 类 号：R746[医药卫生—神经病学与精神病学]