[Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing].
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.


CONCLUSIONS
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.
Gu
Xiao-Mei
XM
Dept. of Oral Pathology, School of Stomatology, Peking University, Beijing 100081, China.
Li
Tie-Jun
TJ
D001478:Basal Cell Nevus Syndrome; D005260:Female; D006801:Humans; D009154:Mutation; D009807:Odontogenic Cysts; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface; D017422:Sequence Analysis, DNA
D011956:Receptors, Cell Surface