牙源性角化囊肿中PTCH基因的突变检测  

PTCH gene mutations in odontogenic keratocysts

作　　者：袁峻伟[1] 李铁军[1] 钟镐镐[2] 赵红珊[3] 

机构地区：[1]北京大学口腔医学院.口腔医院口腔病理研究室,100081 [2]北京大学医学部病理系 [3]北京大学基础医学院免疫系人类疾病基因研究中心

出　　处：《中华口腔医学杂志》2006年第1期41-44,共4页Chinese Journal of Stomatology

基　　金：国家自然科学基金资助项目(30240031);北京市自然科学基金资助项目(7032031)

摘　　要：目的检测牙源性角化囊肿（OKC）中PTCH基因突变的发生频率、类型及分布特点，分析散发OKC与伴发痣样基底细胞癌综合征（NBCCS）OKC之间的分子病理联系。方法收集8例OKC新鲜病变组织（4例散发，4例伴发NBCCS），提取DNA，采用PCR直接测序法检测OKC病变组织中的PTCH基因突变。结果分别于4例NBCCS—OKC和2例散发OKC中检测到6处PTCH基因突变，2例为错义突变，引起1个氨基酸的改变；其余4例突变分别为1～7个碱基插入或缺失，其中3例引起读码框的改变（移码突变），并导致蛋白质的提前截断，1例导致了2个氨基酸的插入。结论PTCH基因突变不仅常见于NBCCS—OKC，部分散发OKC病变也可以发生该基因的异常。Objective To investigate the frequency, type and distribution of PTCH mutations in odontogenic keratocysts （OKC） and to analyze the molecular pathological relationship between sporadic OKC and OKC associated with nevoid basal cell carcinoma syndrome （NBCCS）. Methods Genomic DNA was extracted from 8 cases of OKC lesions （4 sporadic OKCs and 4 NBCCS-related OKCs ）. PTCH gene mutations were detected by PCR-direct sequencing. Results Six novel PTCH mutations were identified in 6 out of 8 cases （2 sporadic and 4 NBCCS-related OKCs）. Two of these were missense mutations leading to substitution of an amino acid residue respectively. The other 4 mutations were identified as insertion or deletion ranging from one single base to 7 bases, three of which caused frame-shift leading to premature truncation of PTCH protein and one resulted in an insertion of 2 amino acid residues. All these identified mutations were novel and have not been previously described. Conclusions PTCH gene mutation is a common event in NBCCS-related OKCs and could also be detected in some sporadic OKCs. Abnormalities of PTCH gene may be involved in the pathogenesis of OKC.

关 键 词：牙源性囊肿 基底细胞痣综合征 PTCH基因 基因突变 

分 类 号：R782[医药卫生—口腔医学]