牙源性角化囊肿PTCH1基因突变的检测及对成纤维细胞迁移的影响  

Identification of PTCH1 Gene Mutation in Odontogenic Keratocysts and Its Effect on Fibroblast Migration

作　　者：蒋永琪 陈喜文[1] 申静 吴世安[1] 翟洁梅[3] 李铁军[4] 高静[2] 陈德富[1] 曲佳菲 Jiang Yongqi;Chen Xiwen;Shen Jing;Wu Shian;Zhai Jiemei;Li Tiejun;Gao Jing;Chen Defu;Qu Jiafei(College of Life Sciences,Nankai University,Tianjin 300071,China;Intermational VIP Dental Clinic,Tianjin Stomatological Hospital,School of Medicine,Nankai University,Tianjin Key Laboratory of Oral and Marillofacial Function Reconstruction,Tianjin 30004l,China;School of Stomatology,Kunming Medical University,Kunming 650500,China;School and Hospital of Stomatology,Peking University,Beijing 100081,China)

机构地区：[1]南开大学生命科学学院,天津300071 [2]天津市口腔医院国际诊疗中心,南开大学医学院天津市口腔功能重建重点实验室,天津300041 [3]昆明医科大学口腔医学院,云南昆明650500 [4]北京大学口腔医学院,北京100081

出　　处：《南开大学学报(自然科学版)》2025年第1期61-66,共6页Journal of Nankai University(Natural Sience)

基　　金：国家自然科学基金(82101032,81960203);天津市口腔功能重建重点实验室面上项目(2021KLMS08);天津市医学重点学科(专科)建设项目(TJYXZDXK-078D)。

摘　　要：牙源性角化囊肿(OKC)是颌骨常见的囊性病损,可单发也可伴发痣样基底细胞癌综合征(NBCCS).PTCH1是NBCCS的致病基因,其突变可在NBCCS和散发型OKC病例中被检出,然而OKC发病的始动因素及机制目前并不完全清楚.为此,本研究扩大散发型OKC样本收集量,经Sanger测序发现,36例样本中的6例,囊壁上皮组织有7处新发现的属于体细胞突变型的PTCH1突变,包括3处移码突变和4处剪切位点突变.综合之前结果,发现PTCH1突变无明显热点,但存在区域优先的现象.体外培养2例综合征型OKC间质细胞和2例散发型OKC间质细胞,发现综合征型OKC间质细胞的迁移明显快于散发型,即PTCH1突变可能与OKC发生发展相关,为OKC临床治疗奠定了理论基础.Odontogenic keratocysts(OKCs)are common cystic jaw lesions,which can be either single or multiple with nevoid basal cell carcinoma syndrome(NBCCS).Mutations of PTCH1 gene are responsible for the majority of NBCCS and its mutations could be identified in NBCCS and sporadic OKCs.However,the initiating factors and molecular mechanisms of OKCs remain unclear.The sample size of sporadic OKCs was expanded,and the sanger sequencing was used to detect PTCH1 mutations in the epithelial linings of the cystic wall.Six of the 36 sporadic OKC samples were revealed with seven novel PTCH1 mutations,including three frameshift mutations and four splice site mutations,all of which were somatic mutations.No mutation hotspots but regional priorities were observed.Cultivation of two syndromic OKC stromal cells and sporadic OKC stromal cells revealed that the migration of syndromic OKC stromal cells was significantly faster than that of sporadic OKC stromal cells,suggesting that PTCH1 mutations may affect the occurrence and development of OKCs.

关 键 词：牙源性角化囊肿(OKC) PTCH1 区域优先 细胞迁移 疾病发展 

分 类 号：R78[医药卫生—口腔医学]