PCR-SSCP和DNA测序检测牙源性角化囊肿中PTCH基因的突变

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。

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

Objective To investigate PTCH gene mutations in odontogenic keratocysts(OKC).Methods PCRSSCP 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.