89个癫痫高发家系的临床遗传学分析

Investigate clinical genetics of epilepsy in 89 clans

目的探讨癫痫的危险因素及特发性癫痫的遗传方式。方法对1988例癫痫患者进行发病危险因素和临床类型等分析,并对其中有明显遗传的89例高发家系进行家系分析、分离分析和多基因分析。结果前几位的危险因素是高热惊厥、围产伤、炎症、脑外伤及遗传因素等,而在宣城地区血吸虫对本病有一定的影响,说明癫痫危险因素在不同的年龄、不同的发病类型、不同的地区等方面有所区别。高发家族中每级亲属发病率均明显高于普通人群,血缘关系越近下代发病率越高。说明癫痫具有肯定的家族聚集倾向。特发性癫痫不符合多基因遗传,而主要为常染色体隐性遗传,其分离分析和多基因分析等支持常染色体隐性遗传的假设。结论遗传因素是癫痫的危险因素,特发性癫痫仍然是一类具有高度临床表现异质性和遗传异质性的神经系统疾病,真正的致病机制尚不清楚。

Objective To investigate epilepsy risk factor,idiopathic epilepsy mode of inheritance.Methods 1988 cases have been diagnosed from 1987 to 2009,to carry out risk factor,clinical type among which 89 patients’ families to carry out family analysis segregation analysis multiple gene analysis.Results The important factors are febrile seizure,perinatal injury,inflammation,cerebral trauma,genetic abnormality.The infection of Schistosomiasis was obviously seen in our district To explain epil risk factor is somewhat distinction at various age,type,region.On the high incidence families per grade relatives incidence rate obviously super-everyman.The nearer consanguinity is the higher incidence of the disease next hypo-generation to explain epilepsy have certain family to gather tendency,idiopathic epilepsy discrepancy polygenic inheritance.Main is autosomal recessive inheritance,segregation analysis and multiple gene analysis to support autosomal recessive inheritance hypothesis.Conclusions Hereditary factor is epil risk factor.Idiopathic epilepsy is a main clinical situation heterogeneity and genetic heterogeneity nervous system disease,genuine pathogenesis is unclear.