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目的为了探讨特发性癫痫(IEP)的遗传方式。方法采用家系分析、多基因分析和分离分析的方法,对山东省遗传病群体调查中发现的210个IEP家系进行了研究。结果IEP不符合多基因遗传,而主要为常染色体隐体遗传。分离分析结果显示,U×U多发家庭组和U×A家庭组可以接受常染色体隐性遗传的假设;部分U×U组的家庭可以接受常染色体隐性遗传的假设,但是大多数U×U组的家庭为散发病例,散发病例比例为78.5%。结论散发病例和U×U(f)家庭组可能存在遗传异质性,其原因有待进一步的研究。
Objective To explore the genetic mode of idiopathic epilepsy (IEP). Methods A total of 210 IEP pedigrees discovered in the survey of genetic diseases in Shandong Province were studied by means of pedigree analysis, polygene analysis and segregation analysis. Results IEP did not accord with polygenic inheritance, but mainly autosomal recessive inheritance. Separation analysis showed that U × U family and U × A family group can accept the assumption of autosomal recessive inheritance; some U × U group of families can accept the assumption of autosomal recessive inheritance, but most U × U The group of families were sporadic cases, the proportion of cases was 78.5%. Conclusion There may be genetic heterogeneity in sporadic cases and U × U (f) family group, and the reason for further study.