多巴胺D2受体基因单核苷酸多态性与Tourette综合征疗效的关联研究  

Association study of single nucleotide polymorphism of dopamine D2 receptor gene and Tourette syndrome therapeutic effects

作　　者：黄环环[1] 何凡[1] 程宇航[1] 梁月竹[1] 崔永华[1] 杨建红[1] 贾军朴[1] 郑毅[1] 

机构地区：[1]首都医科大学附属北京安定医院儿科,100088

出　　处：《中华精神科杂志》2013年第3期153-157,共5页Chinese Journal of Psychiatry

基　　金：北京市自然科学基金（7082045）;首都临床特色应用研究（D101100050010061）

摘　　要：目的 探讨Tourette综合征（TS）疗效与多巴胺D2受体（DRD2）基因单核苷酸多态性（SNP）位点rs 1800497多态分布频率的相关性.方法 应用TaqMan探针SNP基因分型技术,对非难治性TS组（74例）和难治性TS组（91例）患者DRD2基因SNP位点rs1800497进行基因分型；根据自制的临床资料调查表和耶鲁综合抽动严重程度量表收集患者临床资料,使用《美国精神障碍诊断与统计手册（第4版）》TS诊断标准进行诊断.结果 非难治性TS组与难治性TS组DRD2基因SNP位点rs1800497基因型（非难治性TS组：C/C、C/T、T/T的频率分别为16.2％、47.3％、36.5％,难治性TS组C/C、C/T、T/T频率分别为20.9％、51.6％、27.5％）及等位基因（非难治性TS组C和T的频率分别为39.9％、60.1％,难治性TS组C和T的频率分别为46.7％、53.3％）频率分布差异无统计学意义（x2=1.680,1.552;P均＞0.05）.结论 DRD2基因SNP位点rs1800497多态分布频率可能与Tourette综合征药物疗效无关联.Objective To explore the difference of rs1800497 of single nucleotide polymorphism （SNP） of dopamine D2 receptor （DRD2） gene genotype and allele frequency in Tourette syndrome （TS） patients with different therapeutic effect in Chinese Han population.Methods The rs1800497 polymorphism of the DRD2 gene was genotyped by TaqMan SNP genotyping assay technique.The clinical data and tic symptoms was assessed with the clinical data schedule table and the Yale Global Tie Severity Scale.TS was diagnosed with the Diagnostic and Statistical Manual of Mental Disorder,the Forth Edition diagnostic criteria for Tourette syndrome.Results The frequencies of the DRD2 gene rs1800497 polymorphism C/C,C/T and T/T genotypes were 16.2％,47.3％,and 36.5％ in non-refractory TS group and 20.9％,51.6％,and 27.5％ in refractory TS group.The allelic frequencies of rs1800497 polymorphism C and T were 39.9％ and 60.1％ in non-refractory TS group and 46.7％ and 53.3％ in refractory TS group.There was no significant differences in the frequencies of genotype and allele for the rs1800497 polymorphism of DRD2 gene between non-refractory TS group（74 samples）and refractory TS group （91 samples） （x2 =1.680,1.552;P ＞0.05）.Conclusions The rs1800497 polymorphism of DRD2 gene may be not associated with TS patients with different therapeutic effect.

关 键 词：多动秽语综合征 受体 多巴胺D2 多态性 单核苷酸 治疗效果 

分 类 号：R749.94[医药卫生—神经病学与精神病学]