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Revista de Obstetricia y Ginecología de Venezuela
versión impresa ISSN 0048-7732
Resumen
CACERES, Miguel et al. Identificación de la mutación R579X en el exón 18 del gen RB1, en pacientes con lesiones cervicales asociadas a infección por virus del papiloma humano.. Rev Obstet Ginecol Venez [online]. 2012, vol.72, n.4, pp.255-260. ISSN 0048-7732.
Objective: To identify the mutation R579X in exon 18 located RB1 gene in patients with cervical lesions associated with human papilloma virus infection by PCR-SSCP, PCR-RFLP and sequencing. Method: Study of 72 samples of cervical brushing of the healthy women, infected with human papilloma virus and with cervical lesions that required DNA extraction, PCR amplification of exon 18 of the RB1 gene, PCR-SSCP, Sequencing and PCR-RFLP analysis. Results: PCR-SSCP analysis revealed two different band patterns. We indentified the R579X mutation in exon 18 of the RB1 tumor suppressor gene in 30.56 % of the experimental samples. Conclusions: The mutation found in the experimental samples leads to the formation of a non-functional truncated protein, in adition, human papilloma virus infection might contributed to the immortalization of cells with this mutation.
Palabras clave : RB1; Human papilloma virus; PCR-SSCP; PCR-RFLP; DNA sequencing.