Detection of PTCH gene mutations in odontogenic keratocysts by SSCP and DNA sequencing / 华西口腔医学杂志
West China Journal of Stomatology
;
(6): 293-296, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-288947
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Basal Cell Nevus Syndrome
/
Odontogenic Cysts
/
Polymerase Chain Reaction
/
Sequence Analysis, DNA
/
Receptors, Cell Surface
/
Polymorphism, Single-Stranded Conformational
/
Mutation
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Language:
Chinese
Journal:
West China Journal of Stomatology
Year:
2006
Type:
Article
Similar
MEDLINE
...
LILACS
LIS