目的研究全面性癫痫伴热性惊厥附加症(GEFS+)患者的γ-氨基丁酸A型受体γ2亚单位(GABRG2)基因分布。方法对10个家系先证者的GABRG2基因进行体外扩增及测序分析。结果发现一核苷酸多态位点,未发现已报道的突变。结论GABRG2基因突变在我国北方汉族人分布并不普遍。
Objective To find the relationship between mutation of gamma 2 subunit of the gamma-aminobatyric acid type A receptor (GABRG2) and generalized epilepsy with febrile seizure plus( GEFS + ). Methods Probands of 10 families with GEFS + were selected, the GABRG2 gene were sequenced. Results We found a single nucleotide polymorphism site, and did not find the reported mutations. Conclusion GABRG2 mutation is not common in Hans of northem China.