RESUMEN
OBJECTIVE@#To study the relationship of the expressions of p53 and mdm2 in leukoplakia cancer.@*METHODS@#RT-PCR was used to detect the mRNA of p53, mdm2 in patients with leukoplakia cancer. The frequencies of p53, mdm2 in peripheral blood were detected by flow cytometric analysis.@*RESULTS@#The expression of p53mRNA in normal oral mucosa, simple oral leukoplakia, no-simple oral leukoplakia and leukoplakia cancer were 7.7%, 27.3%,33.3%, 56.8%, respectively. The frequencies of p53 in normal oral mucosa, simple oral leukoplakia, no-simple oral leukoplakia and leukoplakia cancer were (0.3±0.1)%, (1.6±0.9)%, (1.9±1.1)%, (3.4±1.8)%. The expression of mdm2 mRNA in normal oral mucosa, simple oral leukoplakia, no-simple oral leukoplakia and leukoplakia cancer were 0.0%, 6.8%, 11.1%, 37.8%, respectively. The frequencies of mdm2 in normal oral mucosa, simple oral leukoplakia, no-simple oral leukoplakia and leukoplakia cancer were (0.1±0.1)%, (0.8±0.6)%, (1.2±0.8)%, (1.2±0.8)%. There was a positively correlation between p53 mRNA and mdm2 mRNA.@*CONCLUSIONS@#The positive rate of p53 and mdm2 cells in the peripheral blood increases in patients with leukoplakia cancer tissue and has positive correlation with the severity of leukoplakia cancer.
Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Regulación Neoplásica de la Expresión Génica , Leucoplasia , Genética , Metabolismo , Proteínas Proto-Oncogénicas c-mdm2 , Genética , Metabolismo , Proteína p53 Supresora de Tumor , Genética , MetabolismoRESUMEN
<p><b>OBJECTIVE</b>To detect the MSX1 gene mutation in a Chinese family with oligodontia.</p><p><b>METHODS</b>Blood samples were obtained from seven affected and seven unaffected individuals in the pedigree. All exons and flanking intronic boundaries of the MSX1 gene were amplified with polymerase chain reaction technique and then directly sequenced. The website of bioinformatics was used to predict the effect of the mutation on the function.</p><p><b>RESULTS</b>A splicing mutation (IVS1-2A > G) was found at position -2 near the 3' end of the IVS1 of MSX1, which made a change of the intron 1 splice acceptor site. None of the mutation was found in normal individuals of the family and in 100 unrelated healthy matched control individuals.</p><p><b>CONCLUSIONS</b>IVS1-2A > G was a novel splicing mutation identified in the MSX-1 gene and it might be responsible for nonsyndromic oligodontia in this family.</p>