West China Journal of Stomatology
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GU Xiao-mei, LI Tie-jun
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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 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.
Key words: odontogenickeratocyst, nevoidbasalcellcarcinomasyndrome, PTCHgene;
GU Xiao-mei, LI Tie-jun. Detection of PTCH Gene Mutations in Odontogenic Keratocysts by SSCP and DNA Sequencing[J]. West China Journal of Stomatology.
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https://www.hxkqyxzz.net/EN/Y2006/V24/I04/293