G1465A polymorphism of GABBR1 gene is associated with juvenile myoclonic epilepsy in Chinese Han nationality

张政; 罗勇军; 晏宁; 晏勇; 彭惠民

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G1465A polymorphism of GABBR1 gene is associated with juvenile myoclonic epilepsy in Chinese Han nationality

更新时间：2026-01-09

- G1465A polymorphism of GABBR1 gene is associated with juvenile myoclonic epilepsy in Chinese Han nationality
- Journal of Army Medical University Vol. 29, Issue 15, Pages: 1488-1490(2007)
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  CLC： R181.33;R394.1;R749.17
- Published：2007
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张政,罗勇军,晏宁,晏勇,彭惠民.GABBR1基因G1465A多态与中国汉族青少年肌阵挛癫痫的关系[J].陆军军医大学学报(原第三军医大学学报),2007,29(15):1488-1490.

　ZHANG Zheng,LUO Yong-jun,YAN Ning,YAN Yong,PENG Hui-min.G1465A polymorphism of GABBR1 gene is associated with juvenile myoclonic epilepsy in Chinese Han nationality[J].J Amry Med Univ (J Third Mil Med Univ),2007,29(15):1488-1490.
张政,罗勇军,晏宁,晏勇,彭惠民.GABBR1基因G1465A多态与中国汉族青少年肌阵挛癫痫的关系[J].陆军军医大学学报(原第三军医大学学报),2007,29(15):1488-1490. DOI：

　ZHANG Zheng,LUO Yong-jun,YAN Ning,YAN Yong,PENG Hui-min.G1465A polymorphism of GABBR1 gene is associated with juvenile myoclonic epilepsy in Chinese Han nationality[J].J Amry Med Univ (J Third Mil Med Univ),2007,29(15):1488-1490. DOI：

摘要

目的探讨γ－氨基丁酸B受体B1亚单位(gamma-aminobutyric acid B receptor 1，GABBR1)基因G1465A多态与中国汉族人青少年肌阵挛癫痫（juvenile myoclonic epilepsy，JME）的关系。方法柱层析法提取血细胞基因组DNA，应用PCR-RFLP检测105例青少年肌阵挛癫痫患者和100例中国汉族正常人GABBR1基因G1465A多态基因型。结果 ① A/A基因型频率在JME组（0.524）显著高于对照组（0.360）（P0.05）。② A等位基因频率在JME组（0.695）显著高于对照组（0.560）（P0.05）。③ A等位基因频率患JME的相对风险度为1.792（95%CI:1.195~2.688）（P0.05）。结论 GABBR1基因G1465A多态与中国汉族人群JME相关，A等位基因可能是JME的易感基因。

Abstract

Objective To investigate the relationship between gamma-aminobutyric acid B receptor 1 (GABBR1) gene G1465A polymorphism and juvenile myoclonic epilepsy (JME) in Chinese Han nationality. Methods EDTA-blood specimens were collected from the unrelated individuals of Han nationality in Chongqing. DNA samples were extracted with column chromatography. The G1465A polymorphism was detected by PCR-RFLP and DNA sequencing for 105 individuals of JME group and 100 controls. Results The frequency of A/A genotype was significantly higher in JME group (0.524) than that in control group (0.360) (P0.05). The frequency of A allele was significantly higher in JME group (0.695) than that in control group (0.560) (P0.05). The odd ratio for the A allele carrier with JME was 1.792 (95% CI: 1.195-2.688) (P0.05). Conclusion The G1465A polymorphism of GABBR1 gene confers a highly increased susceptibility to JME in Chinese Han nationality. Moreover

the A allele may be the susceptible gene of JME patients.

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