实用医学杂志2012，Vol.28Issue(1)：61-63,3.DOI:10.3969/j.issn.1006-5725.2012.01.026
全面性癫痫伴热性惊厥附加症GABRG2基因突变的筛查
Mutational analysis of GABRG2 gene in patients with generalised epilepsy with febrile seizures plus
摘要
Abstract
Objective To screen the GABRG2 in Chinese patients diagnosed as generalised epilepsy with febrile seizures plus (GEFS + ) and to explore the possible relationship between the GABRG2 and GEFS+. Methods After collecting blood samples from 49 patients with GEFS+ and 110 normal control subjects, all 10 coding exons and introns relevant to mRNA splice of GABRG2 were screened with DHPLC technology and then sequence analysis was performed on those with abnormal elution peaks. Results We did not detect GABRG2 mutation but found a SNP:Exon2-89 T>A(rs2284782). Genotypes and allelic frequencies for the SNP in both groups were not significantly different(P> 0.05). Conclusions Our results indicate that mutations in GABRG2 are not likely to be substantially involved in the etiology of GEFS+.关键词
癫痫/惊厥,发热性/GABRG2基因/突变/单核苷酸多态性Key words
Epilepsy/Seizures, febrile/GABRG2/ Mutation/Single nucleotide polymorphism引用本文复制引用
秦兵,刘超,朱其详,于美娟,石奕武,廖卫平..全面性癫痫伴热性惊厥附加症GABRG2基因突变的筛查[J].实用医学杂志,2012,28(1):61-63,3.基金项目
国家自然科学基金资助项目(编号:30900451) （编号:30900451）
广东省自然科学基金资助项目(编号:10151018201000021) （编号:10151018201000021）
广东省科技计划项目(编号:2011B061300094) （编号:2011B061300094）
