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.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
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)
