|
|||||
|
|
| 全面性癫癎伴热性惊厥附加症家系GABRB2基因测序研究 | |
| 引用本文： | 张守山,黄希顺,王家勤,尹景岗,魏建科,顾仁骏,卢宏,黄素娟,霍卫红,郭学鹏.全面性癫癎伴热性惊厥附加症家系GABRB2基因测序研究[J].实用儿科临床杂志,2006,21(1):30-31. |
| 作者姓名： | 张守山 黄希顺 王家勤 尹景岗 魏建科 顾仁骏 卢宏 黄素娟 霍卫红 郭学鹏 |
| 作者单位： | 1. 杞县计划生育技术指导站,河南,杞县,475200 2. 郑州大学第一附属医院,郑州,450052 3. 新乡医学院,河南,新乡,453003 4. 美国田纳西大学医学科学中心 5. 美国新奥尔良图兰大学公共卫生与热带病医学院 |
| 摘 要： | 目的对全面性癫伴热性惊厥附加症(GEFS )侯选基因GABRB2进行测序研究。方法设计GABRB2外显子-内含子交界处内含子引物,采用PCR直接测序法,对一GEFS 家系GABRB2编码区全部11个外显子进行测序分析。结果患儿GABRB2基因外显子2,mRNA第133个碱基发现一新的C/G多态性。结论该家系未发现GABRB2基因编码区的突变;所显示的mRNA的单个碱基多态性对以后其他癫家系的连锁分析及GABRB2 mRNA、基因功能研究均有重要意义。 |
| 关 键 词： | 癫癎 惊厥 发热性 GABA受体基因 单个碱基多态性 |
| 文章编号： | 1003-515X(2006)01-0030-02 |
| 收稿时间： | 2005-11-15 |
| 修稿时间： | 2005年11月15 |
Sequencing Analysis of GABRB2 Gene in a Generalized Epilepsy with Febrile Seizure Plus Family |
|
| ZHANG Shou-shan,HUANG Xi-shun,WANG Jia-qin,YIN Jing-gang,WEI Jian-ke,GU Ren-jun,LU Hong,HUANG Su-juan,HUO Wei-hong,Robyn H. Wallace,GUO Xue-peng.Sequencing Analysis of GABRB2 Gene in a Generalized Epilepsy with Febrile Seizure Plus Family[J].Journal of Applied Clinical Pediatrics,2006,21(1):30-31. | |
| Authors: | ZHANG Shou-shan HUANG Xi-shun WANG Jia-qin YIN Jing-gang WEI Jian-ke GU Ren-jun LU Hong HUANG Su-juan HUO Wei-hong Robyn H Wallace GUO Xue-peng |
| Institution: | 1. Department of Pediatrics, Center for Population and Family Planning Technology of Qixian County, Qixian 475200, China; 2. the First Affiliated Hc~spital of Zhengzhou University, Zhengzhou 450052, China; 3, Xinxlang Medical College, Xinxiang 453003, Chlna; 4. University of Tennessee Health Science Center, Memphis, TN, USA;5. School of Public Health and Tropical Medicine Tulane University, New Orleans, LA, USA |
| Abstract: | Objective Sequencing analysis of candidate gene GABRB2 in generalized epilepsy with febrile seizure plus(GEFS~ ).Method Intron primers were designed around the splicing sites of 11 exons and PCR-direct sequencing method was performed in all 11 exons of GABRB2 gene.Result A novel C/G polymorphism in exon 2(mRNA G133 C) had been detected in patients.Conclusion The new single nucleotide polymorphism(SNP) from GABRB2 exon 2 is useful for SNP linkage mapping in other familial epileptic syndrome and mRNA functional analysis of GABRB2 gene in the future. |
| Keywords: | epilepsy febrile seizure GABRB2 single nucleotide polymorphism |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |