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| 全身性癫痫伴热性惊厥附加症家系GABRA1基因测序分析 | |
| 引用本文： | 魏建科,黄希顺,尹景岗,魏华,卢宏,黄素娟,顾仁骏,贾福军,李冲,霍卫红,LEMUEL RACACHO,王家勤,郭学鹏,DENNIS BULMAN. 全身性癫痫伴热性惊厥附加症家系GABRA1基因测序分析[J]. 中国现代医学杂志, 2006, 16(17): 2574-2577 |
| 作者姓名： | 魏建科 黄希顺 尹景岗 魏华 卢宏 黄素娟 顾仁骏 贾福军 李冲 霍卫红 LEMUEL RACACHO 王家勤 郭学鹏 DENNIS BULMAN |
| 作者单位： | 1. 郑州大学第一附属医院,河南,郑州,450052 2. 加拿大渥太华大学渥太华健康研究所 3. 美国新奥尔良图兰大学公共卫生与热带病医学院 4. 新乡医学院第三附属医院,河南,新乡,453002 |
| 摘 要： | 目的对全身性癫痫伴热性惊厥附加症（GEFS＋）2家系进行基因定位，并对侯选基因GABRA1进行测序分析。方法用连锁分析的方法对GEFS＋家系进行研究；设计GABRA1外显子一内含子交界处全部11对内含子引物，采用Sanger双脱氧链终止法，对GABRA1PCR测序。结果在5q34区域最大LOD值3．815。GABRA1基因测序显示外显子；有-T／C多态性。结论GEFS＋致病基因在5q34区域取得了肯定的连锁关系。在该研究的2家系未发现GABRA1基因的突变；所显示的单个碱基多态性对其他癫痫家系的连锁分析及其他癫痫综合征分子遗传学机制的研究均有意义。 |
| 关 键 词： | 癫痫 热性惊厥 连锁分析 GABRA1基因 单个碱基多态性 |
| 文章编号： | 1005-8982（2006）17-2574-04 |
| 收稿时间： | 2006-01-27 |
| 修稿时间： | 2006-01-27 |
Sequencing analysis of GABRA1 gene in linkage mapping generablized epilepsy with febrile seizures |
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| WEI Jian-ke,HUANG Xi-shun,YIN Jing-gang,WEI Hua,LU Hong,HUANG Su-juan,GU Ren-jun,JIA Fu-jun,LI Chong,HUO Wei-hong,LEMUEL RACACHO,WANG Jia-qin,GUO Xue-peng,DENNIS BULMAN. Sequencing analysis of GABRA1 gene in linkage mapping generablized epilepsy with febrile seizures[J]. China Journal of Modern Medicine, 2006, 16(17): 2574-2577 | |
| Authors: | WEI Jian-ke HUANG Xi-shun YIN Jing-gang WEI Hua LU Hong HUANG Su-juan GU Ren-jun JIA Fu-jun LI Chong HUO Wei-hong LEMUEL RACACHO WANG Jia-qin GUO Xue-peng DENNIS BULMAN |
| Affiliation: | 1.The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R.China; 2.Ottawa Health Research Institute, University of Ottawa, Canoda; 3.The Third Affiliated Hospital of Xinxiang Medical College, Xinxiang, Henan 453002, P.R.China; 4.School of Public Health and Tropical Medicine Tulane University, New Orleans, U.S.A |
| Abstract: | [Objective] Linkage mapping generalized epilepsy with febrile seizures plus(GEFS+) gene and candidate gene GABRA1 sequencing analysis was studied. [Methods] Using microsatellite markers from CHLC human linkage mapping screening set 8 to perform genome-wide linkage analysis and PCR direct sequencing candidate genes. [Results] The highest LOD score 3.815 achieved at 5q34 region from 2 GEFS+ families. A T/C polymorphism in exon 4 of GABRA1 gene was detected. [Conclusion] Linkage mapped a GEFS+ locus to 5q34 in 2 Chinese families and reported a single nucleotide polymorphism (SNP) from candidate gene GABRA1 exon 4. |
| Keywords: | epilepsy febrile seizure linkage analysis GABRA1 gene, single nueleotide polymorphism |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |