摘要
目的：对一个中国北方遗传性癫痫伴热性惊厥附加症（GEFS＋）家系进行连锁分析，寻找致病基因。方法：总结所选家系的临床特点，选择GEFS＋的5个候选基因及4个候选基因座附近的微卫星标记进行连锁分析。0—0时，LOD值≥2提示连锁，而优势对数量表（LOD）评分≤-2提示不连锁。结果：所选微卫星标记LOD值均〈2，与致病位点无肯定连锁关系。结论：GEFS＋的遗传异质性高，具有严重表型的家系找到致病突变的可能性更大。
Objective：To investigate a family with genetic epilepsy with febrile seizures plus （GEFS ＋） from northern China and find virulence gene. Methods： The clinical characteristics of the family were analysed. The microsatelite markers near 5 candidate genes and 4 gene 10ci were selected to make a link- age study. The criterion was： hint of linkage as LOD≤2 and hint of no tinkageas LOD≤2. Results： The LOD scores of all microsatelite markers were 〈2. There were not supportive linkage between these markers and virulence genes. Conclusion： The genetic heterogeneity of GEFS＋ is high and the gene mu- tations of the families with more severe genotype will occar more easily.
出处
《癫痫与神经电生理学杂志》
2010年第2期77-80,共4页
Journal of Epileptology and Electroneurophysiology(China)
