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김법완,권태균,노기석,정성광,장세국,정운복,김정완 경북대학교 병원 1997 경북대학교병원의학연구소논문집 Vol.1 No.1
The objective of this study was to characterise the pattern of p53 mutations in bladder turmor. In this study, 25 bladder transitional cell carcinomas were analyed by immunohistochemistry (IHC) for p53 nuclear overexpression, and the results were compared with those of polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis in exon 5-8 of the p53 gene and DNA sequencing analysis. 15 out of 20 cases (75%) showed p53 nuclear immunoreactivities on IHC. On PCR-SSCP analysis, 10 out of 25 cases(40%) had abnormal shifts on mobility. 62% of the mutations were in exon 8. Direct DNA sequencing analysis were performed in these 10 cases to confirm the presence of mutated p53 genes and to determine the type of mutations. Sixteen point mutations were detected in 10 cases. Tow specimens had double mutations and another two had triple mutations. G:C→A:T transitions were the most frequent patterns (62.5%). One mutation was a premature stop codon and two were silent mutations. There out of 10 had a point mutation at codon 285 (GAG/Glu→AAG/Lys) and two had at codon 280(GAG/Glu→AAG/Lys). One of 16 mutations was transition at hot spot codon 273 with CpG site. These results suggest that altered expressions and point mutations of p53 occured in all grade of bladder cancer, but are more associated with hight grade bladder tumors. To elucidate the carcinogenesis of bladder cancer, further studies should be carried out.