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目的分析重庆地区肝细胞癌ｐ５３基因突变谱．方法住院肝细胞癌患者２０例，皆经病理证实，长期在重庆地区居住，其中早期小肝癌４例，中期６例，晚期１０例．采用ＰＣＲ－ＳＳＣＰ，ＰＣＲ直接测序技术分析ｐ５３基因５，６，７和８外显子突变．结果ｐ５３基因总的突变率为４０％．其中外显子５和６各占１０％，外显子７占２０％，未发现外显子８的突变；测序证实外显子７为第２４９位密码子Ｇ→Ｔ的颠换突变．突变病例多为晚期肿瘤．结论重庆地区肝细胞癌存在明显的ｐ５３基因突变，反映了该地区肝癌与黄曲霉毒素和ＨＢＶ或ＨＣＶ病毒有关
Objective To analyze the p53 gene mutation spectrum of hepatocellular carcinoma in Chongqing area. Methods Twenty patients with hepatocellular carcinoma were confirmed by pathology and lived in Chongqing for a long period of time, including 4 cases of early small hepatocellular carcinoma, 6 cases of middle hepatocellular carcinoma and 10 cases of late stage. PCR-SSCP and PCR direct sequencing were used to analyze mutations in exon 5, 6, 7, and 8 of p53 gene. Results The total mutation rate of p53 gene was 40%. Exon 5 and exon 6 accounted for 10% and exon 7 accounted for 20%. No exon 8 mutation was found. Sequence analysis confirmed that exon 7 was the transposition mutation of G→T in codon 249. Mutation cases are mostly advanced tumors. Conclusion There is a significant mutation in p53 gene in hepatocellular carcinoma in Chongqing, reflecting the relationship between liver cancer in this area and aflatoxin and HBV or HCV virus