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目的:研究全身性癫痫伴高热惊厥附加症致病基因连锁定位分析。方法:分析 2个家系患者的临床表现特征,并进行基因连锁分析。结果:患者的发作类型、频率及持续时间均不相同。在D5S1480及D5S1471的微卫星标记处,在不同重组率时LOD值在 0~2. 0。在两个微卫星标记之间新增加了 5对微卫星标记(D5S1500,D5S820,D5S1403,D5S1476,D5S1386),进一步进行连锁分析。结果在D5S1500、D5S820处LOD值均大于 3. 0(θ=0. 00);提示有肯定连锁关系。结论:患者存在着表型异质性;全身性癫痫伴高热惊厥附加症致病基因在 5q34区域。
Objective: To study the linkage loci of pathogenic genes in patients with generalized epilepsy accompanied by febrile seizures. Methods: The clinical features of 2 pedigrees were analyzed and the genetic linkage analysis was performed. Results: The patient’s seizure type, frequency and duration are different. In the D5S1480 and D5S1471 microsatellite markers at different recombination rates when the LOD value of 0 ~ 2. Five pairs of microsatellite markers (D5S1500, D5S820, D5S1403, D5S1476, D5S1386) were newly added between the two microsatellite markers for further linkage analysis. Results The LOD values of D5S1500 and D5S820 were all greater than 3.0 (θ = 0.00), indicating a positive linkage. Conclusion: There is phenotypic heterogeneity in patients. Systemic epilepsy with concomitant episodes of causative genes in the 5q34 region.