伴痣样基底细胞癌综合征的牙源性角化囊性瘤中PTCH2基因的突变检测  

PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome

作　　者：徐丽莉[1] 李铁军[1] 

机构地区：[1]北京大学口腔医学院.口腔医院口腔病理科,北京100081

出　　处：《北京大学学报（医学版）》2008年第1期15-18,共4页Journal of Peking University:Health Sciences

基　　金：国家自然科学基金(30625044和30572048);教育部高等学校博士学科点专项科研基金(20050001110)资助~~

摘　　要：目的:检测伴痣样基底细胞癌综合征(nevoid basal cell carcinoma syndrome,NBCCS)牙源性角化囊性瘤(keratocystic odontogenic tumor,KCOT)中是否存在PTCH2基因的异常。方法:收集15例NBCCS相关的KCOT患者的新鲜病变组织和外周血标本,提取DNA,采用PCR直接测序法进行PTCH2的突变分析。结果:发现2例尚未报道的错义突变(c.323T>C,c.1319C>T),分别引起1个氨基酸的改变,另发现9处PTCH2的多态性位点,其中3处为尚未报道的新位点。结论:虽然在NBCCS患者中PTCH2突变不如PTCH1突变频发,但少数NBCCS相关的KCOT患者可发生PTCH2的胚系突变,其病理学意义有待进一步研究。Objective： To investigate alterations in associated with nevoid basal cell carcinoma syndrome PTCH2 in keratocystic odontogenic tumors （KCOT） （NBCCS）. Methods： Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs. PTCH2 mutations were detected by PCR-direct sequencing. Results： 2 novel missence mutations（c. 323 T 〉 C ,c. 1319 C 〉 T）of PTCH2 were identified and 9 polymorphisms （3 of which were novel） were determined in the present series. Conclusion： Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs. The pathogenetic role of these PTCH2 mutations is yet to be clarified.

关 键 词：角化病 牙源性囊肿 基底细胞痣综合征 基因 突变 

分 类 号：R739.82[医药卫生—肿瘤]