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目的研究108个汉族癫家系的遗传模式及其临床特征。方法用分离分析法和多基因阈值理论结合系谱分析对108个癫家系的遗传方式进行调查,同时按遗传流行病学方法研究其表型及其临床特征。结果共调查108个癫家系的2919个家庭成员。共发现24个常染色体显性遗传家系,19个X-连锁显性或隐性遗传家系,51个常染色体隐性遗传家系,另有14个家系为非孟德尔遗传模式。2个家系符合家族性颞叶癫,1个家系符合具有不同病灶的家族性部分性癫。108个家系中共有患者537例(已死亡67例),其中复杂部分性发作45例,单纯部分性发作12例,部分继发全身强直-阵挛性发作213例,强直性发作13例,全身强直-阵挛性发作254例。结论重庆地区和四川省的汉族癫家系有多种不同的遗传模式。不同家系、同一家系中的不同患者可有不同的表型或预后。应特别关注家族性颞叶癫、具有不同病灶的家族性部分性癫的存在。
Objective To study the genetic patterns and clinical features of 108 Han Chinese epileptic pedigrees. Methods The genetic patterns of 108 epileptic pedigrees were investigated by using segregation analysis, multi-gene threshold theory and pedigree analysis. At the same time, their phenotypes and clinical features were studied by genetic epidemiology. Results A total of 2919 family members of 108 epileptic pedigrees were investigated. A total of 24 autosomal dominant genetic families, 19 X-linked dominant or recessive genetic families and 51 autosomal recessive genetic families were found. Another 14 families were non-Mendelian genetic models. Two families were associated with familial temporal lobe epilepsy, and one family met familial partial epilepsy with different lesions. A total of 537 patients (67 deaths) were enrolled in 108 families, of which 45 were complex and partial, 12 were simple partial seizures, 213 were tonic-clonic seizures in some cases, 13 were tonic seizures, Tonic - clonic seizures in 254 cases. Conclusion Han Chinese epileptic pedigrees in Chongqing and Sichuan Province have many different genetic models. Different families, different patients in the same family may have different phenotypes or prognosis. Particular attention should be paid to the presence of familial temporal lobe epilepsy, familial partial epilepsy with different lesions.