新疆地区维吾尔族GABA(A)受体基因多态性与癫痫的关系

Association between the polymorphism of GABA(A) receptor gene and epilepsy in Uygur in Xinjiang

目的探讨新疆地区维吾尔族GABA(A)受体基因多态性与癫痫的关系。方法采用病例-对照研究方法,收集新疆地区维吾尔族的癫痫患者85例为病例组,同期正常健康人90例作为正常对照。癫痫病例组中,耐药组32例和非耐药组53例,提取所有受试者外周血基因组DNA,采用RT-PCR扩增后基因测序鉴定GABA(A)受体基因rs211037、rs201987位点多态性,并采用卡方进行统计学分析。结果维吾尔族癫痫病例组和正常对照组间基因位点的CC、CT、TT基因型频率及C、T等位基因频率比较,差异均无统计学意义(P>0.05)。癫痫耐药组与非耐药组基因位点的CC、CT、TT基因型频率及C、T等位基因频率比较,差异也无统计学意义(P>0.05)。结论新疆维吾尔族人群中GABA(A)受体基因rs211037,rs201987位点多态性与癫痫患病无相关,与癫痫耐药也不存在关联性。

Objective To investigate the association between the polymorphism of GABA(A)receptor gene and drug-resistant epilepsy in Uygur,Xinjiang.Methods A case-control study was designed.A total of 85 Uygur patients with epilepsy in Xinjiang were chosen as case group,and 90 healthy controls were chosen as normal control group.There were 32 cases of drug-resistance and 53 cases of drug-response in epilepsy group.DNA samples were obtained from all these objects.The gene polymorphism of rs211037,rs201987 of GABA(A)gene was determined by polymerase chain reaction and gene sequencing.The genotype and allele frequencies of rs211037,rs201987 among the different groups were analyzed by Chi-square test.Results No significant differences of genotype frequencies(CC,CT,TT)and allele frequencies(C and T)were identified between drug-resistance group and drug-response group,and no significant differences of genotype frequencies(CC,CT,TT)and allele frequencies(C and T)were identified between case group and normal control group(P>0.05).Conclusion The GABA(A)receptor gene rs211037 and rs201987 polymorphisms in Xinjiang Uygur population are not associated with epilepsy,and also not associated with epilepsy resistance.