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.
出处
《中华整形外科杂志》
CAS
CSCD
北大核心
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）
