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

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.

• Authors: Xiao-Mei Gu, Tie-Jun Li
• Journal: Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology (Hua Xi Kou Qiang Yi Xue Za Zhi) Vol. 24 Issue 4 Pg. 293-6 (Aug 2006) ISSN: 1000-1182 [Print] China
• PMID: 16999341 (Publication Type: Journal Article)

Chemical References

• Receptors, Cell Surface

Topics

• Basal Cell Nevus Syndrome
• Female
• Humans
• Mutation
• Odontogenic Cysts
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Polymorphism, Single-Stranded Conformational
• Receptors, Cell Surface
• Sequence Analysis, DNA