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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Síndrome do Nevo Basocelular
/
Cistos Odontogênicos
/
Reação em Cadeia da Polimerase
/
Análise de Sequência de DNA
/
Receptores de Superfície Celular
/
Polimorfismo Conformacional de Fita Simples
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
West China Journal of Stomatology
Ano de publicação:
2006
Tipo de documento:
Artigo
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