GABRG2基因多态性在GEFS^+中分布的研究

Polymorphism Research of GABRG2 of the Patients with GEFS^+

目的 探讨GABRG2基因的突变及多态性与全身性癫痫发作伴高热惊厥叠加综合征(GEFS+ )之间的关系。方法 应用PCR -RFLP法对 2 7名GEFS+ 患者 ,10 7名其他癫痫对照组及 6 0名正常对照组进行GABRG2基因突变及多态性的检测。分别检测其外显子 8上的K2 89M突变 ,外显子 5上的C5 4 0T、C5 88T基因多态性。结果 在 194例病例及对照中均未发现K2 89M及C5 4 0T的突变 ,而多态位点C5 88T等位基因频率C %为 5 9.2 6 % ,T %为 4 0 .74 % ,与正常对照组比较有明显差异(P <0 .0 5 ) ,突变前后其二级结构发生了明显变化。结论 外显子 8的K2 89M基因突变及外显子 5的单核苷酸多态性 (SNP)C5 4 0T在研究人群中突变率比较低。外显子 5的SNPC5 88T在GEFS+ 病例组与正常对照之间有明显差异 ,可能与mRNA二级结构变化影响其稳定性导致功能的异常有关。

Objective In order to find the relationship between polymorphsim of a gene encoding a GABAA receptor γ 2-subunit(GABRG2) and generalized epilepsy with febrile seizure plus(GEFS +).Methods We selected 27 patients with GEFS + as case group and other kinds of epilepsy 107 patients and healthy as control to test the mutation and polymorphism of GABRG2:K289M,C540T,C58T. Results There are no mutation K289M and the single nucleitide polymorphism(SNP) C540T found in the case and control. But the SNP C588T exist statistical difference between the GEFS + and the control groups. The frequency of the allele C and T in GEFS + are 59.26% and 40.74%, P<0.05.Moreover, the result of the prediction of the secondary structure of its mRNA show there are apparently distinguish after the base change.Conclusions The change of the secondary structure of mRNA induced by the mutation might affect its stability and cause the abnormity of function of the protein.