摘要
目的探讨分析环状RNA(circular RNA,circRNA)在先天性小耳畸形残耳软骨及正常耳廓软骨中表达谱的差异及生物信息学分析。方法采用高通量基因芯片技术检测6例先天性小耳畸形的患者的小耳侧残耳软骨与正常侧耳软骨,获得circRNA差异性表达谱。结果与同一患者对侧正常耳廓软骨比较,残耳软骨中1.1倍以上变化,并且差异有统计学意义(P<0.05)的circRNA定义为差异表达的circRNA。结果显示,先天性小耳畸形患者的小耳侧残耳软骨与其正常侧耳廓软骨样本间差异表达的circRNA共896条,其中上调127条,下调769条。结论先天性小耳畸形存在明显的circRNA差异性表达,这些circRNA相互作用在某些信号通路可能对小耳畸形发生和发展中发挥重要作用。
Objective:To analyse circRNA expression profiles in microtia using bioinformatics analysis.Methods:We examined circRNA expression profiles in residual ear cartilage and normal ear cartilage from individual congenital microtia patients.Results:The gene chips used in this study detected 896 circRNAs with differential expression in the residual ear cartilage compared with the normal cartilage,including 127 up-regulated and 769 down-regulated circRNAs.Conclusion:Differential expression of circRNA occurs in microtia.These RNAs and related signalling pathways may play an important role in the occurrence and development of microtia.
作者
张玲
林琳
潘博
宋宇鹏
杨庆华
蒋海越
ZHANG Ling;LIN Lin;PAN Bo;SONG Yu-Peng;YANG Qing-hua;JIANG Hai-yue(Plastic Surgery Hospital,Chinese Academy of Medical Sciences,Peking Union Medical College,Beijing 100144,China)
出处
《中国优生与遗传杂志》
2020年第3期303-305,共3页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金(81701926)
北京市科学技术委员会资助首都特色项目(No.Z161100000516098)
中国医学科学院医学与健康科技创新工程(2016-12M-2-006,2016-12M-2-001)
