特发性癫痫遗传方式的研究  

A STUDY OF GENETIC PATTERNS OF IDIOPATHIC EPILEPSY

作　　者：白苻武[1,2] 郭亦寿 单连玉[1,2] 陈丙玺 窦效伟 郭辰虹[1,2] 毛文伟 邹雅群[1,2] 

机构地区：[1]山东省潍坊医学院遗传教研室 [2]山东医科大学遗传教研室

出　　处：《中华医学遗传学杂志》1998年第1期38-41,共4页Chinese Journal of Medical Genetics

摘　　要：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 genetic patterns of idiopathic epilepsy(IEP). Methods Using familial analysis, tests for multifactorial inheritance and segregation analysis, we studied 210 pedigrees with IEP found in a population survey in Shangdong province. Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders. The results of segregation analysis indicate that the genetic pattern of U*U multiplex families and U*A group is autosomal recessive. Only a few cases in U*U group may accept the assumption of autosomal recessive inheritance while the other are sporadic cases. The frequency of sporadic cases is approximately 78.5%. Genetic heterogeneity may influence U*U(f) group and U*U group. Conclusion Further and careful empirical scrutiny of U*U(f) group and the sporadic cases in U*U group offers the best hope for getting a clear understanding of genetic patterns and mechanisms in IEP.

关 键 词：特发性 癫痫 遗传方式 常染色体 隐性遗传 

分 类 号：R742.1[医药卫生—神经病学与精神病学] R394.8[医药卫生—临床医学]