摘要
目的研究小儿多发性抽动症的遗传学易感因素,了解儿茶酚氧位甲基转移酶(COMT)基因在小儿多发性抽动症发病中的作用,探讨小儿多发性抽动症的病因及其治疗机制。方法采用病例对照研究,COMT基因定型采用聚合酶链反应扩增、限制性片段长度多态性分析,用SPSS软件进行统计学处理。结果COMT基因型和正常对照间有显著性差异(P<0.01)。结论小儿多发性抽动症患者COMT基因区域多态性有明显改变,患者Met等位基因型比例下降,Val等位基因型比例升高,提示小儿多发性抽动症患者的发病因素与COMT基因多态性变化引起酶活性下降,从而导致多巴胺系统的缺陷相关。
Objective It is to study the genetics predisposing factor of multiple tics （MT）, to understand the role of catechol-o-methyltransferas （COMT） gene in the onset of MT and to discuss the etiological factor of MT and its therapy mechanism, Methods The case control study was used, COMT genotyping was analyzed with polymerase chain reaction （PCR） followed by restriction fragment length polymorphism （RFLP）. Statistical analysis was performed with SPSS software. Results There was significant difference between COMT genotype of MT patients and healthy controls （P〈 0.01 ）, Conclusion The polymorphism in the region of COMT gene in MT patients has obvious changes, The proportion of Met allele genotype of MT patients lower and the proportion of Val allele genotype rose. It explains that the etiological factor of MT re- lates to the polymorphism change of COMT gene causing enzymatic activity lowering and thereby inducing the defect of dopamine system.
出处
《现代中西医结合杂志》
CAS
2007年第29期4261-4263,共3页
Modern Journal of Integrated Traditional Chinese and Western Medicine
