PTCH gene mutations in odontogenic keratocysts / 中华口腔医学杂志
Chinese Journal of Stomatology
; (12): 41-44, 2006.
Article
in Zh
| WPRIM
| ID: wpr-303438
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the frequency, type and distribution of PTCH mutations in odontogenic keratocysts (OKC) and to analyze the molecular pathological relationship between sporadic OKC and OKC associated with nevoid basal cell carcinoma syndrome (NBCCS).</p><p><b>METHODS</b>Genomic DNA was extracted from 8 cases of OKC lesions (4 sporadic OKCs and 4 NBCCS-related OKCs). PTCH gene mutations were detected by PCR-direct sequencing.</p><p><b>RESULTS</b>Six novel PTCH mutations were identified in 6 out of 8 cases (2 sporadic and 4 NBCCS-related OKCs). Two of these were missense mutations leading to substitution of an amino acid residue respectively. The other 4 mutations were identified as insertion or deletion ranging from one single base to 7 bases, three of which caused frame-shift leading to premature truncation of PTCH protein and one resulted in an insertion of 2 amino acid residues. All these identified mutations were novel and have not been previously described.</p><p><b>CONCLUSIONS</b>PTCH gene mutation is a common event in NBCCS-related OKCs and could also be detected in some sporadic OKCs. Abnormalities of PTCH gene may be involved in the pathogenesis of OKC.</p>
Full text:
1
Index:
WPRIM
Main subject:
DNA Mutational Analysis
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Basal Cell Nevus Syndrome
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Odontogenic Cysts
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Receptors, Cell Surface
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Patched Receptors
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Patched-1 Receptor
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Genetics
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Mutation
Limits:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Stomatology
Year:
2006
Type:
Article