PCR-SSCP和DNA测序检测牙源性角化囊肿中PTCH基因的突变  

Detection of PTCH Gene Mutations in Odontogenic Keratocysts by SSCP and DNA Sequencing

作　　者：谷小美[1] 李铁军[1] 

机构地区：[1]北京大学口腔医院病理科,北京100081

出　　处：《华西口腔医学杂志》2006年第4期293-296,共4页West China 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基因突变的特点。方法采用PCR-SSCP筛查与DNA直接测序的方法对12例OKC进行PTCH基因突变的检测,其中2例为痣样基底细胞癌综合征(NBCCS)相关OKC,10例为散发OKC。结果在4例OKC中发现了4处突变,其中2处生殖细胞突变发生在2例NBCCS相关OKC,2处体细胞突变发生在2例散发OKC。另外,还在10例OKC中检测到了8处PTCH基因多态性。结论NBCCS相关OKC和散发OKC均可发生PTCH基因突变,但突变水平不同,PTCH基因的突变在二者的发病中可能均起重要作用。Objective To investigate PTCH gene mutations in odontogenic keratocysts （OKC）. Methods PCR- SSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome （NBCCS） associated OKC. Results Four mutations were identified in 4 cysts, among which two germline mutaions were associated with NBCCS and 2 somatic mutations were in 2 unrelated sporadic cases. In addition, eight previously reported polymorphisms in the PTCH gene were also found in 10 cases. Conclusion The present study indicated that both sporadic and NBCCS-related OKCs could carry PTCH gene mutation. Thus, mutational inactivation of PTCH gene may play a significant role in the pathogenesis of OKC.

关 键 词：牙源性角化囊肿 痣样基底细胞癌综合征 PTCH基因 

分 类 号：R450[医药卫生—治疗学]