抽动障碍遗传印迹的家系研究

目的 研究遗传印迹是否与抽动障碍的遗传病因学有关。方法 对171个抽动障碍先证者采用国际标准化的抽动障碍遗传研究定式检查工具（STOBS）以及标准化表型评定程序收集先证者及其一、二、三级亲属的表型资料，将家系研究法与家族史法相结合进行抽动障碍的家系研究。结果 母系传递对于抽动障碍先证者的复杂运动性抽动症状具有显著影响（β偏回归系数＝6．6，P＝0．01）；母系传递的先证者发病年龄提早（对数秩检验Log Rank=4.71,P=0.029)；父系传递的先证者CBCL行为量表的注意问题分数显著增高（t=2.78,x^2=0.01)。结论 抽动障碍的传递存在亲源特异性表达，抽动障碍病因学中可能存在遗传印迹机制。

Family study of genomic imprinting in tic disorder

OBJECTIVE: To investigate whether genomic imprinting is involved in the etiology of tic disorder. METHODS: International standard structural schedule for the genetic research of tic disorder and standard process of phenotype evaluation, in addition to both family study method and family history method were used in the family study of 171 probands with tic disorder. RESULTS: Maternal transmission was associated with the symptom of complex motor tics in the probands (beta ratio = 6.6, P = 0.01); Maternal transmission was more likely to present earlier-onset of the disease (Log Rank = 4.71, P = 0.029); However, paternally transmitted tic disorder was characterized by increased attention problem score in CBCL behavioral scale among the proband (t = 2.78, chi(2) = 0.01). CONCLUSION: Parental specific expression exists in the transmission of tic disorder, which gives evidence that genomic imprinting may be involved in the genetic mechanism of tic disorder.