COL18A1基因在先天性小耳畸形疾病中的表达研究  

The expression study of COL18A1 gene in congenital microtia

作　　者：宋宇鹏[1] 蒋海越[1] 杨庆华[1] 潘博[1] 林琳[1] 

机构地区：[1]中国医学科学院北京协和医学院整形外科医院,北京100144

出　　处：《中国优生与遗传杂志》2017年第6期88-92,共5页Chinese Journal of Birth Health & Heredity

基　　金：北京市自然科学基金(7132176);中国医学科学院整形外科医院院所基金青年创新项目(Q2015011)

摘　　要：目的检测COL18A1基因在先天性小耳畸形中的甲基化及其RNA表达情况,进而探讨基因表达的异常与先天性小耳畸形发病之间的关系。方法收集先天性小耳畸形患者的残耳软骨组织及细胞为研究对象,非耳畸形患者的正常耳软骨组织及细胞作为对照。应用Spectro CHIP芯片对COL18A1基因的Cp G岛进行各个Cp G位点的检测,筛选出存在甲基化水平差异的Cp G位点;提取RNA,利用实时荧光定量PCR技术对各组的基因表达情况进行检测。结果 COL18A1_2_Cp G_17的位点存在统计学上的甲基化水平差异;软骨组织实验组与对照组在COL18A1基因的表达存在差异,且具有统计学意义。结论 COL18A1基因的表达异常可能与小耳畸形的发病相关。Objective:To study the expression of COL18A1 gene in congenital microtia and to discuss the relationship between the expression of COL18A1 and the etiology of the disease. Methods:To collect the residual ear cartilage and chondrocyte of microtia as the research object;normal ear cartilage and chondrocyte of patients without ear malformation as control. Choosing Spectro CHIP array based on matrix-assisted laser desorption/ionization-time of flight mass spectrography analysis to detect the methylation level of each Cp G site in abnormal methyletion Cp G islands in COL18A1 gene of both experimental group and control group.Using the real-time quantitative PCR to test the RNA expression level of COL18A1 gene between each group in ear cartilage and chondrocyte. Results:In the abnormal methylated Cp G islands of COL18A1 gene,one differentially methylated Cp G site(COL18A1_2_Cp G_17)was found with statistical significance.In the cartilage,RNA expression of experimental group was lower than control group with significant difference. Conclusions:It suggested that the abnormal expression of COL18A1 gene might be related to the pathogenesis of microtia.

关 键 词：先天性小耳畸形 COL18A1基因 甲基化RNA 基因表达 

分 类 号：R764.7[医药卫生—耳鼻咽喉科]