EXT1基因在多发性外生骨疣中表达情况的研究  

The study of EXT1 gene expression in herditary multiple exostosis

作　　者：罗朝松 李贵振 曾东 张学俊 陈剑锋[1] Luo Chaosong;Li Guizhen;Zeng Dong;Zhang Xuejun;Chen Jianfeng(Department of Orthopedics,the People's Hospital of China Three Gorges University,Yichang First People's Hospital,Yichang,Hubei,443000,China;Department of Orthopedics,Enshi Central Hospital,Enshi,Hubei,445000,China)

机构地区：[1]三峡大学人民医院,宜昌市第一人民医院骨科,湖北宜昌443000 [2]恩施市中心医院骨科,湖北恩施445000

出　　处：《当代医学》2020年第29期1-4,共4页Contemporary Medicine

基　　金：宜昌市医疗卫生科研项目(A16-301-22);三峡大学青年科学基金(KJ2013A008)。

摘　　要：目的通过对两类研究对象中EXT1基因及其编码的EXT1蛋白进行定性及半定量分析,探究EXT1基因及编码的EXT1蛋白在骨疣(HME)患者和非骨疣患者中存在表达差异,以进一步探讨EXT1基因对骨疣发病机制的影响。方法选取2012年1月至2018年12月在宜昌市第一人民医院骨科接受手术治疗的10例HME患者手术切除的病理组织为观察组,选取同期遭受创伤或接受关节置换的10例患者在手术过程中切除的软骨组织为对照组。利用RT-PCR技术对两组软骨组织中EXT1基因进行半定量分析;利用Western blot技术对两组软骨组织中EXT1基因所编码的EXT1蛋白进行半定量分析;利用免疫荧光法对EXT1蛋白进行定性检测。比较两组EXT1基因、EXT1蛋白的表达情况。结果RT-PCR法检测结果显示,观察组软骨组织中EXT1基因表达水平明显低于对照组(P<0.05)。Western blot和免疫荧光法检测结果显示,观察组软骨组织中EXT1蛋白表达量低于对照组(P<0.05)。结论骨疣患者软骨组织中EXT1基因的表达量明显低于非骨疣患者。外生骨疣患者软骨组织中EXT1基因量的减少会导致其编码合成的EXT1蛋白表达降低,从而影响Ihh信号系统,该系统在人体生长板软骨细胞发育过程中起重要的调控作用,进而导致骨疣的发生。Objective In order to define and semiquantitatively analyze the EXT1 gene and the coded EXT1 protein,the differences of expression of the EXT1 gene and the coded EXT1 protein in patients with and without exostosis were researched to further discuss the EXT1 gene's impact on exostosis nosogenesis.Methods The pathological tissues of 10 HME patients who underwent surgical treatment in the Department of Orthopedics of Yichang First People's Hospital from January 2012 to December 2018 were selected as the observation group,and pathological tissues of 10 patients who received trauma or joint replacement during the same period were selected during the surgical procedure were selected as the control group.Utilize RT-PCR technology to semiquantitatively analyze the EXT1 gene in two groups.Using Western blot technology to semiquantitatively analyze the EXT1 gene and the coded EXT1 protein in two groups.Exploit immunofluorescence method to do qualitative detection on EXT1 protein.The expression of EXT1 gene and EXT1 protein between the two groups were compared.Results The results of real-time PCR showed that the expression level of EXT1 gene in the cartilage tissue of the observation group was significantly lower than that of the control group(P<0.05).The results of Western blot and immunofluorescence showed that the expression of EXT1 protein in cartilage tissue of observation group was lower than that of control group(P<0.05).Conclusion The EXT1 expression amount in exostosis patients'cartilage tissue is obviously less than patients without exostosis.Owing to the decrease of EXT1 gene in patients'cartilage tissue,its coded EXT1 protein expression amount declines as well,which has influence on Ihh signal system that plays a regulative role in growth plate cartilage process,and in essence leads to exostosis.

关 键 词：外生骨疣 EXT1基因 EXT1蛋白 Ihh信号系统 

分 类 号：R738.3[医药卫生—肿瘤]