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目的研究抽搐性运动障碍与遗传印迹的垂直传递的关系,探讨其外显率是否存在性别差异。方法采用抽搐性运动障碍定式检查提纲,中国精神障碍分类与诊断以及Yale抽搐性运动严重度全面评分表对31个先证者的家系进行评定和诊断。结果母系传递对先证者复杂运动抽搐性运动症状影响明显为9例(9/10)父亲传递者9例(9/21),两者比较差异有显著性意义(χ2=4.4,P<0.05),发作年龄、抽搐性运动类型、病程、性别等方面在父系传递和母系传递之间差异均无显著性意义。结论在抽搐性运动障碍的垂直传递中遗传印迹起了重要作用。
Objective To study the relationship between twitch-induced dyskinesia and vertical transmission of genetic imprinting and to explore whether there is gender difference in penetrance. Methods 31 pedigrees of probands were assessed and diagnosed by using the sylvatic checklist of Chinese timid dyskinesia, the classification and diagnosis of mental disorders in China, and the comprehensive evaluation scale of Yale’s convulsive motor severity. Results The influence of maternal transmission on the symptoms of convulsive movement in complex movement was significantly higher in 9 cases (9/10), 9 cases (9/21) in the father delivery, the difference was significant (χ2 = 4.4, P <0.05 ), Seizure age, type of seizure movement, course of disease, gender, etc. There was no significant difference between paternal transmission and maternal transmission. Conclusion The genetic imprinting plays an important role in the vertical transmission of convulsive dyskinesia.