Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing.
- Author:
Xiao-mei GU
1
;
Tie-jun LI
Author Information
- Publication Type:Journal Article
- MeSH: Basal Cell Nevus Syndrome; Female; Humans; Mutation; Odontogenic Cysts; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Receptors, Cell Surface; Sequence Analysis, DNA
- From: West China Journal of Stomatology 2006;24(4):293-296
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate PTCH gene mutations in odontogenic keratocysts (OKC).
METHODSPCR-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.
RESULTSFour 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.
CONCLUSIONThe 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.
