中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2012, Vol. 7 ›› Issue (2): 96-100.

• 原著:退行性病与再生 • 上一篇    下一篇

Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population

  

  • 收稿日期:2011-10-25 修回日期:2011-12-12 出版日期:2012-01-15 发布日期:2012-01-15

Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population

Jianming Jiang1, Xiaoling Chen2, Wenting Liu2, Yan Zhao2, Yangtai Guan1, Yan Han1, Feng Wang1, Jiajun Lu2, Zhiliang Yu1, Zhenfang Du2, Xianning Zhang2   

  1. 1 Department of Neurology, Changhai Hospital, Second Military Medical University of Chinese PLA, Shanghai 200433, China
    2 Department of Biochemistry & Genetics, the National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China
  • Received:2011-10-25 Revised:2011-12-12 Online:2012-01-15 Published:2012-01-15
  • Contact: Jianming Jiang, Department of Neurology, Changhai Hospital, Second Military Medical University of Chi-nese PLA, Shanghai 200433, China; Xianning Zhang, Doctor, Professor, Depart-ment of Biochemistry & Genetics, the National Edu-cation Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China jjmjjcn@yahoo.com.cn; zhangxianning@zju.edu.cn
  • About author:Jianming Jiang☆, Doctor, Associate professor, De-partment of Neurology, Changhai Hospital, Second Military Medical University of Chinese PLA, Shanghai 200433, China Jianming Jiang and Xiaoling Chen contributed equally to this work.

PDF

809

Abstract:

This study sought to analyze the genotype and gene mutations of human seizure-related gene 6 in 98 patients with idiopathic generalized epilepsy (non-febrile seizures), who were selected from three generations of the Chinese Han population living in Shanghai, Zhejiang Province, Wuxi of Jiangsu Province, and Jiangxi Province of Southern China. Twenty-six patients’ parents were available as a first-degree relatives group and 100 biologically unrelated healthy controls were collected as the control group. Based on the age of onset and seizure type, the patients were divided into six subgroups. Polymerase chain reaction and DNA direct sequencing analysis showed that the most frequent mutations c.1249dupC (p.Gly418Argfx31) and c.1636A > G (p.Thr546Ala) were detected in some idiopathic generalized epilepsy patients and their asymptomatic first-degree relatives (30.6% vs. 19.2% and 11.2% vs. 26.9%). A novel mutation c.1807G > A (p.Val603Met) was found in a patient with late-onset idiopathic generalized epilepsy. There was no significant difference in the incidence of these three mutations among the different subgroups of idiopathic generalized epilepsy and controls. Thus, further analysis of a larger population is needed to confirm the assumption that human seizure-related gene 6 is a susceptibility gene for idiopathic generalized epilepsy with various sub-syndromes.

Key words: human seizure-related gene 6, non-febrile seizure, generalized epilepsy, mutation, polymorphism, genetic, neural regeneration