多巴胺转运体基因多态性与Tourette综合征疗效的相关性研究

目的 探讨不同疗效的Tourette综合征(TS)患者多巴胺转运体(DAT1)基因40 bp可变串联重复序列(VNTR)多态性分布频率是否存在差异.方法 应用聚合酶链反应-可变串联重复序列多态性分析技术,检测普通TS组(52例)、难治性TS组(63例)和正常对照组(57例)DAT1基因40 bp VNTR多态性;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(YGTSS)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(DSM-Ⅳ)Tourette综合征诊断标准进行诊断.结果 正常对照组、普通TS组和难治性TS组DAT1基因40 bp VNTR基因型频率分布差异无统计学意义(χ2=12.638,P=0.125);难治性TS组等位基因440 bp频率为8,高于普通TS组及正常对照组(1、0),但差异无统计学意义(χ2=11.352,P=0.053).结论 难治性TS中DAT1基因40 bp VNTR 440 bp等位基因出现频率较高,普通TS与难治性TS遗传机制可能存在差异,但需扩大样本含量进一步验证.

Abstract：

Objective To study the difference of dopamine transporter ( DAT1 )gene 40 bp variable number of tandem repeat ( VNTR ) genotype and allele frequency in TS patients with different curative effect in Chinese Han population. Methods In this study, the 40 bp polymorphism in the DAT1 gene was analyzed by using polymerase chain reaction-variable number of tandem repeat and polymorphism. The clinical data and tic symptoms was assessed with the clinical data schedule table and the Yale Global Tic Severity Scale ( YGTSS ). TS was diagnosed with the Diagnostic and Statistical Manual of Mental Disorders,the Forth Edition( DSM-Ⅳ )diagnostic criteria for Tourette syndrome. Results There was no significant differences in the frequencies of genotype for DAT1 gene 40 bp VNTR between normal controls ( 57 samples )and common TS children ( 52 samples ) and refractory TS children ( 63 samples ) (χ2 = 12. 638, P =0.125).The allele 440bp tended to be more in children with refractory TS(refractory TS:commmon TS:normal controls=8:1:0),but with no significat differences(χ2=11.352,P=0.053).Conclusions The DAT1 gene 40 bp VNTR 440 bp allele frequency seems to be higher in children with refractory TS,which suggests common TS and refractory TS have different genetic background. It should be verified by making larger samples in future study.

Association between Tourette syndrome curative effects and the dopamine transporter gene

Objective To study the difference of dopamine transporter ( DAT1 )gene 40 bp variable number of tandem repeat ( VNTR ) genotype and allele frequency in TS patients with different curative effect in Chinese Han population. Methods In this study, the 40 bp polymorphism in the DAT1 gene was analyzed by using polymerase chain reaction-variable number of tandem repeat and polymorphism. The clinical data and tic symptoms was assessed with the clinical data schedule table and the Yale Global Tic Severity Scale ( YGTSS ). TS was diagnosed with the Diagnostic and Statistical Manual of Mental Disorders,the Forth Edition( DSM-Ⅳ )diagnostic criteria for Tourette syndrome. Results There was no significant differences in the frequencies of genotype for DAT1 gene 40 bp VNTR between normal controls ( 57 samples )and common TS children ( 52 samples ) and refractory TS children ( 63 samples ) (χ2 = 12. 638, P =0.125).The allele 440bp tended to be more in children with refractory TS(refractory TS:commmon TS:normal controls=8:1:0),but with no significat differences(χ2=11.352,P=0.053).Conclusions The DAT1 gene 40 bp VNTR 440 bp allele frequency seems to be higher in children with refractory TS,which suggests common TS and refractory TS have different genetic background. It should be verified by making larger samples in future study.