全面性癫痫伴热性惊厥附加症GABRG2基因突变的筛查

目的:筛查全面性癫痫伴热性惊厥附加症(GEFS+)患者的GABRG2基因,并探讨GEFS+与GABRG2基因的关系。方法:收集49例患者及110例正常对照组血样,应用变性高效液相色谱技术对GABRG2基因的10个编码外显子及与mRNA剪接有关的内含子进行筛查,对发现异常洗脱峰者进行测序。结果:未发现GABRG2基因突变,但发现1个单核苷酸多态性(SNP)位点:Exon2-89T>A(rs2284782)。这个SNP位点在两组中基因型和等位基因频率的分布差异无统计学意义(P>0.05)。结论:GABRG2基因突变可能不是GEFS+患者主要的致病原因,SNP(rs2284782)在患者与正常对照者中分布无明显差异。

Mutational analysis of GABRG2 gene in patients with generalised epilepsy with febrile seizures plus

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+.