先天性小耳畸形EYA1基因启动子区域甲基化初步研究。  

Study of methylation of promoter of EYA1 gene in microtia

作　　者：林琳 潘博 蒋海越 庄洪兴 赵延勇 杨庆华 何乐人 韩娟 王淑杰 

机构地区：[1]中国医学科学院整形外科医院外耳中心,北京100144

出　　处：《中华整形外科杂志》2009年第6期436-439,共4页Chinese Journal of Plastic Surgery

基　　金：卫生部临床学科重点项目（2004468）;国家自然科学基金资助项目（30570470,30500290）

摘　　要：目的探讨先天性小耳畸形EYA1基因启动子区域CpG岛甲基化状态。方法应用基质辅助激光解吸附电离飞行时间质谱分析技术，检测了64例先天性小耳畸形患者和36例健康对照的EYA1基因启动子区域CpG岛甲基化情况。结果先天性小耳畸形患者EYA1基因的CpG—Unit3和CpG—Unit5甲基化程度分别为0．09258±0．033846和0．0922±0．02379，与健康对照相比明显降低，其差异具有统计学意义（P=0．001和0．019）。结论先天性小耳畸形存在EYA1基因低甲基化情况，可能与该病的发生发展相关。Objective To explore the methylation of CpG islands in promoter of eye absent gene 1 （EYA1）in microtia. Methods The methylation of CpG islands in EYA1 gene in 64 microtias and 36 healthy controls were measured using the technique of matrix-assisted laser desorption/ionization-time of flight. Results The methylation of CpG Unit3 and CpG_Unit5 of EYA1 gene in mierotia were 0.09258 ± 0.033846 and 0.0922 ± 0.02379, respectively, which were significantly lower than those in control. Conclusions Hypomethylation in mierotia may be related to the pathogenesis of the disease.

关 键 词：小耳畸形 EYA1基因 CPG岛 甲基化 

分 类 号：R764[医药卫生—耳鼻咽喉科]