抽动秽语综合征的多巴胺D4受体基因多态性分析  

Analysis of dopamine D4 gene polymorphism in Tourette′s Syndrome

作　　者：程宇航[1] 郑毅[1] 王力芳[1] 刘瑞玫[1] 李文标[1] 

机构地区：[1]首都医科大学附属北京安定医院科研室,北京100088

出　　处：《中华检验医学杂志》2003年第1期40-41,共2页Chinese Journal of Laboratory Medicine

基　　金：北京市自然科学基金资助项目 ( 7992 0 2 0 )

摘　　要：目的　探讨我国汉族儿童和青少年中抽动秽语综合征 (TS)与多巴胺D4受体基因多态性的关系。方法采用少量血提取DNA和进行聚合酶链反应 ,对 6 7例患儿及 72名正常青少年进行TS与多巴胺D4受体基因 48bp可变串联重复序列 (VNTR)多态性的关联分析。结果　所测人群中的 48bpVNTR多态性表现为 2～ 7次重复 ;其中以 4次重复最为常见。病例组 48bpVNTR 7重复等位基因(DRD4 7R)频率为 3% ,显著高于正常对照组 (P <0 0 5 )。结论　DRD4基因 48bpVNTR多态性主要集中于 4次重复序列片段 ,DRD4 7R等位基因与TS存在关联 ,可能影响TS的易感性。Objective To study the relationship between Tourette′s Syndrome (TS) and the dopamine receptor-4 gene polymorphism in Chinese children and teen-agers. Methods DRD4 genotypes for the exon III VNTR were determined by PCR-based techniques, genomic DNA was extract from small quality of blood. 67 TS children and 72 normal controls were recruited in the study. Result In all samples, the repeat numbers of 48 bp were 2 to 7 and the common unit was 4 repeat allele. The frequent of DRD4*7R all allele in patients was 3%. and more frequently than normal control (P<0.05).Conclusions The 4 repeat unit account for most of the allele of DRD4 48 bp repeat polymorphism in Chinese children. The DRD4*7R may be associated with TS, and have an affect on TS susceptibility.

关 键 词：抽动秽语综合征 多巴胺 受体 基因多态性 TS 

分 类 号：R749.94[医药卫生—神经病学与精神病学]