先天性小耳畸形相关差异表达基因的初步研究  

Preliminary research on the differentially expressed genes related to congenital microtia

作　　者：黄琬璐[1] 林琳[1] 杨庆华[1] 宋宇鹏[1] 潘博[1] 毕晔[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整形七科,北京100144

出　　处：《中国优生与遗传杂志》2015年第4期31-33,60,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(30901568;81272124);北京市自然基金(7132176)

摘　　要：目的研究先天性小耳畸形的基因表达谱并验证差异表达基因。方法以我科收治的单侧先天性小耳畸形患者为研究对象,同一患者的残耳软骨组织为实验组,正常侧耳软骨组织为对照组。通过Agilent Arraystar Human Lnc RNA Microarray V3.0研究残耳和正常侧耳软骨组织基因表达谱的差异。通过实时定量PCR方法验证差异表达基因。结果先天性小耳畸形软骨组织中差异表达基因共553条,其中表达上调的基因120条(如FGFR2基因上调2.64倍),表达下调的基因433条(如ZNF44基因和Wdr82基因分别下调2.00倍和3.65倍)。这些差异表达基因涉及胚胎发育、肢体形成、骨骼发育及信号转导等生物学事件。q PCR结果显示,与对照组相比,实验组软骨组织中FGFR2(t=4.588,P<0.01)基因表达上调,而ZNF44(t=5.398,P<0.01)和Wdr82(t=5.519,P<0.01)基因表达下调。与基因表达谱芯片结果一致。结论筛选了先天性小耳畸形的差异表达基因,FGFR2、ZNF44和Wdr82基因表达变化可能与先天性小耳畸形发病有关。Objective：To study the gene expression profiles of congenital microtia,and validate the differentially expressed genes. Methods：In this study,taken patients with unilateral congenital microtia as targets. The residual ear cartilage tissue was used as experimental group,the normal ear cartilage tissues was selected as control group from the same patient. The differences of gene expression profiles between residual ear and normal ear cartilage tissues in congenital microtia were screened by Agilent Arraystar Human Lnc RNA Microarray V3.0. Real-time PCR was used to identify the differentially expressed genes. Results：553genes were shown in differentially expressed profile of residual ear cartilage tissue of unilateral congenital microtia with 120 genes up-regulated and 433 down-regulated genes. The differentially expressed genes involved in the functions of embryogenesis,limb formation,skeleton development and signal transduction. The results from q PCR indicated that,compared with control group,FGFR2 expression was significantly increased（t=4.588,P0.01）,while ZNF44（t=5.398,P0.01）and Wdr82（t=5.519,P0.01）expressions were significantly reduced in the cartilage tissue of experimental group. The results were the same with that in gene chip. Conclusions：The differentially expressed genes related to congenital microtia were investigated. The changes of FGFR2,ZNF44 and Wdr82 gene expressions might be related to development of congenital microtia.

关 键 词：先天性小耳畸形 耳软骨 差异表达基因 

分 类 号：R764.7[医药卫生—耳鼻咽喉科]