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  • Title: [Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing].
    Author: Gu XM, Li TJ.
    Journal: Hua Xi Kou Qiang Yi Xue Za Zhi; 2006 Aug; 24(4):293-6. PubMed ID: 16999341.
    Abstract:
    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 mutations 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.
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