Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing / 华西口腔医学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate PTCH gene mutations in odontogenic keratocysts (OKC).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>