ABCB1基因多态性与新疆地区维吾尔族人群癫痫病易感性的研究

Relationship between polymorphisms of ABCB1 gene and epilepsy in Uygur population of Xinjiang region

目的:研究ABCB1 C3435T、G2677T/A基因多态性与新疆地区维吾尔族人群癫痫的相关性。方法:采用病例-对照研究设计,选择116例癫痫患者为病例组,116例健康者为对照组。收集所有研究对象血液标本2 mL并提取DNA,利用PCR方法进行基因多态性检测。结果:病例组、对照组中ABCB1基因C3435T位点基因型及等位基因频率分布比较,差异无统计学意义(P>0.05);G2677T/A位点基因型在两组中均仅表现为GG型。结论:ABCB1 C3435T基因多态性在新疆维吾尔族人群与癫痫无相关性。

Objective: To study the association of ABCB1 gene with epilepsy in Uygur population of Xinjiang region. Methods: In this case-control study, the confirmed epilepsy patients from Xinjiang affiliated Medical University from January 2017 to June 2018, 116 cases of epilepsy patients were recruited in case group and 116 healthy individuals were selected as control. 2 mL of blood sample was collected from each subject, from which the DNA was extracted. The polymorphism gene was determined by polymerase chain reaction followed by restriction fragment length polymorphism. Results: No significant association was observed in C3435T alleles and genotypes with epilepsy between case and control groups ( P >0.05), G2677T/A genotypes with epilepsy was GG in two groups. Conclusions: The polymorphisms of C3435T gene may not be associated with epilepsy in Uygur population from Xinjiang region.