Yuan Jun-wei, Li Tie-jun, Zhong Hao-hao, Zhao Hong-shan
Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
Zhonghua Kou Qiang Yi Xue Za Zhi. 2006 Jan;41(1):41-4.
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).
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.
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.
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.
研究牙源性角化囊肿（OKC）中PTCH基因突变的频率、类型及分布，并分析散发性OKC与伴痣样基底细胞癌综合征（NBCCS）的OKC之间的分子病理关系。
从8例OKC病变组织（4例散发性OKC和4例与NBCCS相关的OKC）中提取基因组DNA。采用聚合酶链反应-直接测序法检测PTCH基因突变。
8例中有6例（2例散发性和4例与NBCCS相关的OKC）检测到6种新的PTCH基因突变。其中2种为错义突变，分别导致一个氨基酸残基的替换。另外4种突变被鉴定为1至7个碱基的插入或缺失，其中3种导致移码，导致PTCH蛋白过早截断，1种导致2个氨基酸残基的插入。所有这些鉴定出的突变均为新发现，此前未见报道。
PTCH基因突变在与NBCCS相关的OKC中是常见事件，在一些散发性OKC中也可检测到。PTCH基因异常可能参与了OKC的发病机制。
