局灶性癫痫与全面性癫痫患者的GABA基因多态性研究
The Study on GABA Gene Polymorphism in Patients with Focal Epilepsy and Generalized Epilepsy
DOI: 10.12677/ACM.2021.114266, PDF,   
作者: 彭 淑, 孙妍萍*：青岛大学附属医院神经内科，山东 青岛；王 兰：山东省青岛市第八人民医院神经内科，山东 青岛
关键词: 局灶性癫痫；全面性癫痫；GABA；单核苷酸多态性；Focal Epilepsy； Generalized Epilepsy； GABA； Single Nucleotide Polymorphisms
摘要: 目的：探讨GABA受体基因多态性在局灶性癫痫与全面性癫痫中是否存在差异。方法：将85例癫痫患者分为全面性发作组(n = 26)和局灶性发作组(n = 59)，对患者样本进行测序，得到患者基因型结果，并进行统计分析。结果：rs211037的基因型频率和等位基因频率在局灶性发作组和全面性发作组中无明显差异(p = 0.173; p = 0.839)，rs121909673在本研究所有患者中均未发生突变。结论：我们观察到rs211037和rs121909673在局灶性发作组和全面性发作组中差异无统计学意义，这些结果表明，GABA基因多态性与不同癫痫分类的关联不明确，仍需要进一步的研究。
Abstract: Objective: To investigate whether there is a difference between GABA receptor gene polymorphism in focal epilepsy and generalized epilepsy. Methods: The 85 epilepsy patients were divided into two groups: generalized seizure group (n = 26) and focal seizure group (n = 59). The patient samples were sequenced to obtain the patient genotype results, and the results were statistically analyzed. Results: The genotype frequency and allele frequency of rs211037 showed no significant difference between the focal seizure group and the generalized seizure group (p = 0.173; p = 0.839), and there was no mutation of rs121909673 in all patients in this study. Conclusion: We observed that there was no significant difference in rs211037 and rs121909673 between focal seizures and generalized seizures. These results indicate that the association between GABA gene polymorphism and different types of epilepsy is not clear and further study is needed.
文章引用：彭淑, 王兰, 孙妍萍. 局灶性癫痫与全面性癫痫患者的GABA基因多态性研究[J]. 临床医学进展, 2021, 11(4): 1852-1857. https://doi.org/10.12677/ACM.2021.114266

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