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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 investigate the relationship between brain-specific gene SEZ-6 and essential epilepsy. Methods The mutations of 17 exons of SEZ-6 gene in 128 subjects were detected by PCR amplification and gene fragment sequencing. Of them, there were 27 cases of hereditary epilepsy, 46 cases of primary epilepsy, 40 cases of asymptomatic first-degree relatives of hereditary epilepsy, 15 cases of normal health. Results There was a certain percentage of mutations in asymptomatic first degree relatives of patients with epilepsy and epilepsy. The former had a mutation rate of 52.05% (38/73) and the latter with a mutation rate of 37.5% (15/40) , The difference was statistically significant, the mutation forms the majority of heterozygous mutations. Conclusion The human SEZ-6 gene may be an important new epilepsy candidate gene. Objective To investigate the relationship between brain-specific gene SEZ-6 and essential epilepsy. Methods The mutations of 17 exons of SEZ-6 gene in 128 subjects were detected by PCR amplification and gene fragment sequencing. Of them, there were 27 cases of hereditary epilepsy, 46 cases of primary epilepsy, 40 cases of asymptomatic first-degree relatives of hereditary epilepsy, 15 cases of normal health. Results There was a certain percentage of mutations in asymptomatic first degree relatives of patients with epilepsy and epilepsy. The former had a mutation rate of 52.05% (38/73) and the latter with a mutation rate of 37.5% (15/40) , The difference was statistically significant, the mutation forms the majority of heterozygous mutations. Conclusion The human SEZ-6 gene may be an important new epilepsy candidate gene.