全面性癫癎伴热性惊厥附加症家系γ-氨基丁酸A型受体γ2亚单位基因研究  

Genetic Research of Gene of Gamma 2 Subunit of Gamma-Aminobutyric Acid Type A Receptor in Pedigrees of Generalized Epilepsy with Febrile Seizures Plus

作　　者：常秀红[1] 黄希顺[1] 魏建科[1] 

机构地区：[1]郑州大学第一附属医院神经内科,郑州450052

出　　处：《实用儿科临床杂志》2007年第15期1166-1167,共2页Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金项目资助(30370502)

摘　　要：目的研究全面性癫癎伴热性惊厥附加症(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.

关 键 词：全面性癫痫伴热性惊厥附加症 γ-氨基丁酸A型受体γ2亚单位 儿童 

分 类 号：R742.1[医药卫生—神经病学与精神病学]