脑特异基因SEZ-6与原发性癫痫的关系探讨

Relationship of a brain-specific gene seizure-related (SEZ)-6 with idiopathic epilepsy

目的探讨脑特异基因SEZ-6与原发性癫痫的发病关系。方法运用PCR扩增、基因片段测序的方法检测了128例研究对象的SEZ-6基因的17个外显子的突变情况,其中遗传性癫痫患者27例,散发的原发性癫痫患者46例,遗传性癫痫患者的无症状一级亲属40例,健康正常者15例。结果原发性癫痫患者与遗传性癫痫患者的无症状一级亲属均存在一定比例的突变,前者的突变几率为52.05%(38/73),后者的突变率为37.5%(15/40),二者差异有统计学意义,突变形式以杂合突变占绝大多数。结论人SEZ-6基因可能是一个重要的新的癫痫侯选基因。目的探讨脑特异基因SEZ-6与原发性癫痫的发病关系。方法运用PCR扩增、基因片段测序的方法检测了128例研究对象的SEZ-6基因的17个外显子的突变情况,其中遗传性癫痫患者27例,散发的原发性癫痫患者46例,遗传性癫痫患者的无症状一级亲属40例,健康正常者15例。结果原发性癫痫患者与遗传性癫痫患者的无症状一级亲属均存在一定比例的突变,前者的突变几率为52.05%(38/73),后者的突变率为37.5%(15/40),二者差异有统计学意义,突变形式以杂合突变占绝大多数。结论人SEZ-6基因可能是一个重要的新的癫痫侯选基因。

Objective To explore the relationship of human brain-specific gene SEZ-6 with idiopathic epilepsy. Methods Through extracting genomic DNA, amplifying by PCR, sequencing gene segments, we tested gene mutations in SEZ-6＇s 17 exons of 128 subjects, in which 27 were inherited epilepsy cases, 46 sporadic idiopathic epilepsy cases, 40 the first degree asymptomatic relatives of inherited epilepsy cases, and 15 healthy individuals. Results Some SEZ-6 genes mutated in a certain proportion in the idiopathic epilepsy cases and the asymptomatic relatives of inherited epilepsy cases, with the mutation incidence of the former 52.05% （38/73）, the latter 37.5% （15/40）. Statistically, the difference between them was significance. The mutations were almost heterozygotic. Conclusion The human SEZ-6 gene may be a new important candidate gene to epilepsy.