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| 一个中国北方遗传性癫痫伴热性惊厥附加症家系的基因定位研究 | |
| 引用本文： | 王梦阳,吴立文,林华,王铮,黄尚志. 一个中国北方遗传性癫痫伴热性惊厥附加症家系的基因定位研究[J]. 临床神经电生理学杂志, 2010, 19(2): 77-80 |
| 作者姓名： | 王梦阳 吴立文 林华 王铮 黄尚志 |
| 作者单位： | 1. 中国医学科学院北京协和医院神经科,100730 2. 北京宣武医院 3. 中国医学科学院北京协和医学院基础所遗传室 |
| 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。 |
| 关 键 词： | 热性惊厥附加症（GEFS＋） 基因定位 连锁分析 |
Gene mapping for a family with genetic epilepsy with febrile seizures plus from northern China |
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| Affiliation: | WANG Mengyang,WU Liwen, LIN Hua,et al (Dept of Neurology, Peking Union Medical Collage Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing( 100 7 30 ) , China) |
| Abstract: | 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. |
| Keywords: | Genetic epilepsy with febrile seizures plus（GEFS＋） Gene mapping,Linkage study |
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