多巴胺β羟化酶基因TaqⅠ酶切多态性与抽动秽语综合征:病例对照研究  

Study on the dopamine beta-hydroxylase gene TaqⅠ digestion polymorphism and tourette syndrome:a case-control study

作　　者：刘红[1] 王晓芳[1] 张本恕[1] 

机构地区：[1]天津医科大学总医院神经内科,300052

出　　处：《中国现代神经疾病杂志》2009年第1期60-64,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

摘　　要：目的探讨多巴胺B羟化酶（DBH）基因第5内含子TaqⅠ酶切多态性在天津地区汉族人群抽动秽语综合征发病机制中的作用。方法采用聚合酶链反应一限制性片断长度多态性方法对106例抽动秽语综合征患者和80例正常对照者进行DBH基因第5内含子TaqⅠ酶切多态性基因型分布和等位基因频率检测。结果抽动秽语综合征患者与正常对照者DBH基因第5内含子TaqⅠ酶切多态性基因型分布和等位基因频率比较，差异无统计学意义（均P〉0.05）；抽动秽语综合征伴注意力缺陷多动症患者A2／A2基因型分布和A2型等位基因频率均高于不伴注意力缺陷多动症患者和正常对照者，差异具有统计学意义（均P〈0．05），不伴注意力缺陷多动症患者与正常对照者比较差异无统计学意义（均P〉0．05）。关联分析显示，存在A2型等位基因的抽动秽语综合征患者伴发注意力缺陷多动症的风险增加2．91倍（OR=2．905，95％CI：1．313—6．929，P=0．009）。结论DBH基因第5内含子TaqⅠ酶切多态性可能与天津地区汉族人群抽动秽语综合征无相关性，但A2型等位基因可能会使抽动秽语综合征患者伴发注意力缺陷多动症的风险增加。Objective To investigate the effect of dopamine beta-hydroxylase （DBH） gene intron 5 Taq I digestion polymorphism on the mechanism of tourette syndrome （TS） in Han population in Tianjin. Methods Genotypes distribution and allele frequency of DBH gene intron 5 Taq I digestion polymorphism were examined in 106 TS patients and 80 normal subjects by using polymerase chain reaction-restriction frag- ment length polymorphism （PCR-RFLP） technique. Genotypes distribution and allele frequency were calculated and compared. Results No significant differences were found between TS patients and normal subjects in the genotypes distribution and allele frequency of DBH gene intron 5 Taq I digestion polymorphism （P〉 0.05, for all）. Further more, the distribution of A2/A2 genotype and frequency of A 2 allele in TS with attention deficit hyperactivity disorder （ADHD） patients were higher than those in TS without ADHD patients and normal subjects （P〈0.05, for all）, but no significant differences were found between TS without ADHD patients and normal subjects （P〉0.05, for all）. Related analysis showed that A2 allele significantly increased the risk of suffering ADHD in TS patients by 2.91 （OR =2.905, 95%CI： 1.313-6.929, P=0.009）. Conclusion DBH gene intron 5 Taq I digestion polymorphism is not probably associated with TS patients in Han population in Tianjin, but A2 allele may probably increase the susceptibility of ADHD in TS patients.

关 键 词：多动秽语综合征 多巴胺Β羟化酶 基因频率 多态性 限制性片段长度 病例 对照研究 

分 类 号：R749.94[医药卫生—神经病学与精神病学]