β2肾上腺素能受体基因多态在重症肌无力发病机制中的作用  

Role of β2-adrenergic receptor polymorphisms in pathogenesis of myasthenia gravis

作　　者：王莉莉[1] 谢琰臣[1] 侯世芳[1] 冯凯[1] 殷剑[1] 许贤豪[1] 

机构地区：[1]卫生部北京医院神经内科,100730

出　　处：《中华神经科杂志》2009年第12期828-832,共5页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目（30571707）

摘　　要：目的探讨β2肾上腺素能受体（β2-AR）基因16位、27位密码子遗传多态在重症肌无力（myasthenia gravis，MG）发病机制中的作用。方法应用聚合酶链反应．限制性片段长度多态（PCR-RFLP）方法和PCR产物直接测序检测88例MG患者组和91名性别、年龄相匹配的健康对照（HC）的82-AR基因16位点和27位点多态分布特征。结果β2－AR基因16位点Arg／Arg、Arg／Gly和Gly／Gly基因型频率在MG组依次为44．4％、38．6％和17．0％，HC组依次为29．7％、58．2％和12．1％，两组间差异有统计学意义（χ^2=6．898，P：0．032）。Arg和Gly的等位基因频率在MG组分别为63．6％和36．4％，HC组为58．8％和41．2％，两组间差异无统计学意义。132-AR基因27位点Gln／Gin、Gln／Glu和Glu／Glu基因型频率在MG组依次为77．3％、20．4％和2．3％，HC组依次为78．0％、18．7％和3．3％，两组间差异无统计学意义。Gin和Glu等位基因频率在MG组为87．5％和12．5％，HC组为87．4％和12．6％，两组间差异无统计学意义。两组的基因型多态分布均符合Hardy—Weinberg定律。结论阻．AR16位点基因多态可能是MG发病的独立危险因素，27位点基因多态与MG发病无明确相关性。Objective To explore the correlation of two 132-adrenergic receptor （β2-AR） polymorphisms （Arg16Gly,Gln27Glu） with the pathogenesis of myasthenia gravis （MG）. Methods The genotypes of β2-AR in 88 MG patients and 91 age and gender-matched healthy controls （HC） were determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） analysis. Results The frequencies of three genotypes （Arg/Arg, Arg/Gly and Gly/Gly） in position 16 were 44. 4%, 38. 6%, 17.0% in MG group and 29.7%, 58.2% , 12. 1% in HC group respectively. The difference in distribution of the genotypes between MG group and HC group was statistically significant （χ^2 = 6. 898, P = 0. 032）. The frequencies of Arg and Gly allele were 63.6% and 36.4% in MG group, and 58. 8% and 41.2% in HC group. The difference in distribution of the alleles between MG group and HC group was statistically insignificant. The frequencies of 3 genotypes （ Gln/Gln, Gln/Glu and Glu/Glu） in position 27 were 77. 3%, 20. 4% and 2. 3% in MG group and 78. 0% , 18.7%, 3.3% in HC group respectively. The frequencies of Gin and Glu allele were 87. 5%, 12.5% in MG group, and 87.4%, 12. 6% in HC group. There was no significant difference in distribution of genotypes or alleles between MG group and HC group. Conclusion β2-AR gene polymorphism in position 16 may independently increase the risk of onset of MG, and there is no correlation between the polymorphism in position 27 of β2-AR and the onset of MG.

关 键 词：重症肌无力 受体 肾上腺素能β2 多态性 单核苷酸 

分 类 号：R746.1[医药卫生—神经病学与精神病学]